ClinVar Miner

List of variants studied for hereditary dementia by Illumina Laboratory Services, Illumina

Included ClinVar conditions (231):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3538
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HGVS dbSNP gnomAD frequency
NM_001130823.3(DNMT1):c.1782A>G (p.Thr594=) rs721186 0.99062
NM_004960.3(FUS):c.*1476T>C rs11860134 0.98998
NM_198994.3(TGM6):c.1968-10C>T rs6036467 0.98682
NM_025000.4(DCAF17):c.*2340C>T rs888428 0.97908
NM_004960.4(FUS):c.-54A>G rs929867 0.95117
NM_198994.3(TGM6):c.172A>G (p.Met58Val) rs2076405 0.93204
NM_002739.5(PRKCG):c.72C>T (p.Ala24=) rs2547362 0.89099
NM_000520.6(HEXA):c.1306A>G (p.Ile436Val) rs1800431 0.87890
NM_000520.6(HEXA):c.1518A>G (p.Glu506=) rs4777502 0.87885
NM_014043.4(CHMP2B):c.312T>C (p.Thr104=) rs11540913 0.82371
NM_001378452.1(ITPR1):c.7635T>C (p.Thr2545=) rs711631 0.80127
NM_031448.6(C19orf12):c.*1686T>C rs7255131 0.78821
NM_000487.6(ARSA):c.*919A>G rs5770805 0.78412
NM_000447.3(PSEN2):c.69T>C (p.Ala23=) rs11405 0.77636
NM_006796.3(AFG3L2):c.1650A>G (p.Glu550=) rs11553521 0.77624
NM_022124.6(CDH23):c.*349A>G rs1867978 0.77194
NM_031448.6(C19orf12):c.*2961T>C rs10417597 0.76596
NM_000391.4(TPP1):c.*1628G>A rs7488 0.76311
NM_031448.6(C19orf12):c.*3096_*3097insG rs35973369 0.76181
NM_007126.5(VCP):c.811+3G>A rs514492 0.75591
NM_000520.6(HEXA):c.*589T>G rs11629508 0.73205
NM_000520.6(HEXA):c.*515G>A rs3087652 0.73188
NM_031448.6(C19orf12):c.*881G>A rs3926 0.73115
NM_031448.6(C19orf12):c.324C>T (p.Thr108=) rs10424582 0.72163
NM_031448.6(C19orf12):c.*1020C>A rs1140197 0.71321
NM_000033.4(ABCD1):c.*8G>C rs2229539 0.70012
NM_000033.3(ABCD1):c.*1035C>T rs6643782 0.69879
NM_006610.4(MASP2):c.*225T>C rs1033638 0.69325
NM_006749.5(SLC20A2):c.-305G>A rs2923444 0.68776
NM_001378452.1(ITPR1):c.2007G>A (p.Lys669=) rs2306875 0.68068
NM_006796.3(AFG3L2):c.1389G>A (p.Leu463=) rs11080572 0.67857
NM_006610.4(MASP2):c.1479C>T (p.Ser493=) rs1782455 0.67756
NM_006796.3(AFG3L2):c.752+6C>T rs8097342 0.67671
NM_198994.3(TGM6):c.850+12G>A rs2076404 0.61481
NM_000021.4(PSEN1):c.*1147C>T rs165935 0.61302
NM_001378452.1(ITPR1):c.7689G>A (p.Lys2563=) rs901854 0.59379
NM_173500.4(TTBK2):c.-250G>C rs12437637 0.57925
NM_000521.4(HEXB):c.-126C>T rs71627068 0.55186
NM_000521.4(HEXB):c.-122del rs70976124 0.55177
NM_022089.4(ATP13A2):c.1815C>T (p.Pro605=) rs2076603 0.55111
NM_007126.5(VCP):c.1695+8A>G rs684562 0.54947
NM_033305.3(VPS13A):c.*1024C>T rs9186 0.52644
NM_000146.4(FTL):c.163T>C (p.Leu55=) rs2230267 0.51379
NM_017882.3(CLN6):c.*817C>T rs8142 0.51081
NM_001130823.3(DNMT1):c.1389A>G (p.Pro463=) rs2228611 0.50821
NM_001130823.3(DNMT1):c.1832+14A>G rs2114724 0.50605
NM_000447.3(PSEN2):c.-356A>G rs12758915 0.49997
NM_024411.4(PDYN):c.-381A>G rs1997794 0.49716
NM_000447.3(PSEN2):c.*270C>T rs8383 0.49189
NM_000447.3(PSEN2):c.261C>T (p.His87=) rs1046240 0.48653
NM_000447.3(PSEN2):c.129C>T (p.Asn43=) rs6759 0.48630
NM_000487.6(ARSA):c.1178C>G (p.Thr393Ser) rs743616 0.48362
NM_173500.4(TTBK2):c.23T>C (p.Leu8Pro) rs6493068 0.47359
NM_000033.4(ABCD1):c.*877C>T rs11803 0.46252
NM_004960.4(FUS):c.291C>T (p.Tyr97=) rs1052352 0.45484
NM_000391.4(TPP1):c.*1588C>T rs7487 0.44955
NM_031448.6(C19orf12):c.*1114C>G rs1048123 0.44699
NM_198994.3(TGM6):c.*31T>C rs2076652 0.44571
NM_198994.3(TGM6):c.1968-11C>T rs2076653 0.44564
NM_000033.4(ABCD1):c.*894G>A rs1055847 0.44006
NM_031448.6(C19orf12):c.*1144C>T rs9566 0.41904
NM_000487.6(ARSA):c.*682G>C rs7288338 0.41670
NM_022089.4(ATP13A2):c.2970G>A (p.Val990=) rs761421 0.41522
NM_002087.4(GRN):c.*78C>T rs5848 0.41298
NM_000487.6(ARSA):c.*855G>A rs7288050 0.41126
NM_022089.4(ATP13A2):c.3192C>T (p.Ala1064=) rs9435659 0.40884
NM_022089.4(ATP13A2):c.3516G>A (p.Pro1172=) rs3170740 0.40860
NM_022089.4(ATP13A2):c.2637C>T (p.Gly879=) rs9435662 0.40757
NM_033305.3(VPS13A):c.9069A>G (p.Gly3023=) rs3737289 0.40290
NM_002739.5(PRKCG):c.686+14G>T rs3745405 0.36258
NM_024411.5(PDYN):c.*1030C>T rs2235749 0.36165
NM_002739.5(PRKCG):c.567T>C (p.Asn189=) rs3745406 0.35855
NM_024411.5(PDYN):c.*743T>C rs910080 0.35005
NM_002778.4(PSAP):c.1351-14A>G rs4747203 0.34512
NM_002778.4(PSAP):c.*891G>A rs7869 0.34207
NM_000096.4(CP):c.2662-12T>C rs16861582 0.33387
NM_000306.4(POU1F1):c.*140A>T rs33936108 0.33253
NM_000096.4(CP):c.2286-15del rs143522213 0.30978
NM_001378452.1(ITPR1):c.6717A>G (p.Thr2239=) rs13079522 0.30736
NM_033305.3(VPS13A):c.*1378C>A rs13286867 0.30192
NM_001376.5(DYNC1H1):c.13080T>C (p.Thr4360=) rs13749 0.29982
NM_001376.5(DYNC1H1):c.13372+9G>A rs1004903 0.29622
NM_000487.6(ARSA):c.*635G>A rs5770953 0.29302
NM_004115.4(FGF14):c.*1612G>T rs1046197 0.28765
NM_025000.4(DCAF17):c.150C>T (p.Val50=) rs6751956 0.28531
NM_006796.3(AFG3L2):c.*28G>C rs1129115 0.28281
NM_000391.4(TPP1):c.*1118G>C rs1045450 0.27054
NM_001378452.1(ITPR1):c.2658A>C (p.Leu886=) rs2306877 0.26698
NM_198994.3(TGM6):c.1476G>A (p.Lys492=) rs2295077 0.26375
NM_000487.6(ARSA):c.*1522C>A rs6009939 0.26325
NM_025000.4(DCAF17):c.*2795T>C rs17221346 0.24511
NM_004960.3(FUS):c.*770G>C rs4889537 0.24493
NM_001378452.1(ITPR1):c.7054C>T (p.Leu2352=) rs2291862 0.24351
NM_000021.4(PSEN1):c.*3722C>T rs362344 0.24215
NM_004960.4(FUS):c.147C>A (p.Gly49=) rs741810 0.24179
NM_022089.4(ATP13A2):c.3084-3C>T rs7531163 0.23688
NM_014043.4(CHMP2B):c.*1589G>A rs1060241 0.22762
NM_018325.5(C9orf72):c.*1344C>T rs13691 0.21385
NM_001909.5(CTSD):c.*67A>G rs12214 0.21384
NM_000521.4(HEXB):c.362A>G (p.Lys121Arg) rs11556045 0.20835
NM_018325.5(C9orf72):c.*1406T>C rs9103 0.20796
NM_018325.5(C9orf72):c.870C>T (p.Ser290=) rs10122902 0.20696
NM_022089.4(ATP13A2):c.2790G>A (p.Ser930=) rs3738815 0.20463
NM_001257180.2(SLC20A2):c.*1057C>G rs6841 0.20257
NM_018325.5(C9orf72):c.-27G>A rs10757668 0.20162
NM_025000.4(DCAF17):c.322-14C>T rs192861143 0.20151
NM_000033.4(ABCD1):c.*608G>A rs73640819 0.19859
NM_025000.4(DCAF17):c.*3112C>G rs17221367 0.19832
NM_025000.4(DCAF17):c.999A>G (p.Gln333=) rs3731983 0.19825
NM_025000.4(DCAF17):c.*570G>A rs3795998 0.19821
NM_025000.4(DCAF17):c.*3703A>G rs9789572 0.19820
NM_025000.4(DCAF17):c.*676T>G rs3821084 0.19818
NM_033305.3(VPS13A):c.*222G>A rs12343797 0.19772
NM_025000.4(DCAF17):c.1267-7C>T rs3731981 0.19769
NM_025000.4(DCAF17):c.*2425T>A rs12151641 0.19764
NM_000096.4(CP):c.*769G>A rs1053669 0.19723
NM_000487.6(ARSA):c.1055A>G (p.Asn352Ser) rs2071421 0.19530
NM_007126.5(VCP):c.*153G>T rs1053318 0.19091
NM_000391.4(TPP1):c.1542A>T (p.Gly514=) rs1128396 0.19057
NM_033305.3(VPS13A):c.6492T>C (p.Asp2164=) rs7025532 0.18911
NM_018325.5(C9orf72):c.*921C>A rs3739526 0.18576
NM_025219.3(DNAJC5):c.*2912C>T rs749723 0.17505
NM_002778.4(PSAP):c.1350+5G>A rs11000016 0.16762
NM_001376.5(DYNC1H1):c.624G>A (p.Pro208=) rs3818188 0.16558
NM_024411.5(PDYN):c.600T>C (p.His200=) rs6045819 0.16142
NM_001031726.3(C19orf12):c.*3819T>G rs11879584 0.16068
NM_001386393.1(PANK2):c.1083-14_1083-9dup rs10679953 0.15963
NM_006946.4(SPTBN2):c.3101T>C (p.Val1034Ala) rs506028 0.15920
NM_001376.5(DYNC1H1):c.3600A>G (p.Gln1200=) rs12893215 0.15549
NM_000447.3(PSEN2):c.-275C>T rs1295645 0.15385
NM_031448.6(C19orf12):c.*1219C>T rs1129852 0.15013
NM_001376.5(DYNC1H1):c.8928A>G (p.Leu2976=) rs8010870 0.14754
NM_001909.5(CTSD):c.*597A>C rs8839 0.14604
NM_033305.3(VPS13A):c.6378+15A>T rs12348097 0.14593
NM_000021.4(PSEN1):c.*947G>A rs7523 0.14277
NM_006796.3(AFG3L2):c.-96G>C rs12327346 0.14255
NM_017882.3(CLN6):c.*42T>G rs754655363 0.14249
NM_022124.6(CDH23):c.*204A>G rs2290022 0.13799
NM_000306.4(POU1F1):c.*139T>A rs4988463 0.13634
NM_000487.6(ARSA):c.*741C>T rs8142033 0.13503
NC_000001.11:g.11012634G>A rs11121679 0.13475
NM_198994.3(TGM6):c.789G>A (p.Lys263=) rs6114033 0.13293
NM_001378452.1(ITPR1):c.1151+5C>G rs2306868 0.13045
NM_001376.5(DYNC1H1):c.12087C>A (p.His4029Gln) rs10129889 0.12866
NM_002778.4(PSAP):c.-4C>T rs2070188 0.12811
NM_000521.4(HEXB):c.619A>G (p.Ile207Val) rs10805890 0.12644
NM_024411.5(PDYN):c.*656T>C rs10485703 0.12279
NM_000487.6(ARSA):c.*340T>A rs5741862 0.11788
NM_032383.5(HPS3):c.*172G>A rs34511277 0.11672
NM_001042432.2(CLN3):c.1211A>G (p.His404Arg) rs77595156 0.11421
NM_032383.5(HPS3):c.*128A>G rs73019023 0.11195
NM_022124.6(CDH23):c.9319+11G>A rs11000013 0.10868
NM_001130823.3(DNMT1):c.979A>G (p.Ile327Val) rs2228612 0.10575
NM_033305.2(VPS13A):c.-181G>A rs117488726 0.10492
NM_033305.3(VPS13A):c.3045G>A (p.Pro1015=) rs11145366 0.10477
NM_000021.4(PSEN1):c.*3632G>A rs362393 0.10183
NM_031448.6(C19orf12):c.*2100G>T rs74854677 0.09891
NM_018325.5(C9orf72):c.620A>G (p.Asn207Ser) rs17769294 0.09705
NM_000487.6(ARSA):c.-345G>C rs6151406 0.09453
NM_000033.4(ABCD1):c.-59C>T rs4148030 0.09150
NM_014043.4(CHMP2B):c.27C>T (p.Thr9=) rs2279720 0.09131
NM_001257180.2(SLC20A2):c.*570G>T rs1803657 0.09069
NM_014043.4(CHMP2B):c.372A>C (p.Thr124=) rs1044499 0.09006
NM_002103.5(GYS1):c.*725C>T rs1042265 0.08927
NM_033305.3(VPS13A):c.*565G>A rs989391 0.08857
NM_173500.4(TTBK2):c.-8G>A rs16957250 0.08720
NM_022124.6(CDH23):c.9873G>A (p.Thr3291=) rs2290021 0.08719
NM_000484.4(APP):c.-111G>C rs459543 0.08614
NM_025219.3(DNAJC5):c.*1442A>G rs61744085 0.08435
NM_001909.5(CTSD):c.465T>C (p.Thr155=) rs11555039 0.08387
NM_000033.4(ABCD1):c.1548G>A (p.Leu516=) rs41314153 0.08321
NM_025219.3(DNAJC5):c.*1648C>T rs41278222 0.08304
NM_025219.3(DNAJC5):c.*2711G>A rs76291580 0.08294
NM_025219.3(DNAJC5):c.*1106T>G rs11554629 0.08271
NM_025219.3(DNAJC5):c.*2701C>T rs3206771 0.08172
NM_000021.4(PSEN1):c.*313C>A rs362384 0.08161
NM_000447.3(PSEN2):c.-43C>T rs7961 0.08031
NM_006946.4(SPTBN2):c.585C>T (p.Asn195=) rs34775878 0.08024
NM_198994.3(TGM6):c.1093+5G>A rs6137891 0.07885
NM_031448.6(C19orf12):c.*3463G>A rs150123154 0.07814
NM_022124.6(CDH23):c.*510G>A rs1054635 0.07812
NM_033305.3(VPS13A):c.6027C>T (p.Tyr2009=) rs17424026 0.07721
NM_025219.3(DNAJC5):c.322-10C>T rs78457562 0.07717
NM_000487.6(ARSA):c.*1570C>T rs79823940 0.07507
NM_000487.6(ARSA):c.*1369C>T rs76841085 0.07487
NM_001257180.2(SLC20A2):c.*361A>G rs3763510 0.07343
NM_017882.3(CLN6):c.*1015T>C rs6494720 0.07280
NM_017882.3(CLN6):c.*690A>G rs8033190 0.07262
NM_003560.4(PLA2G6):c.87G>A (p.Val29=) rs2267369 0.07176
NM_001386393.1(PANK2):c.2T>A rs71647828 0.06976
NM_001130823.3(DNMT1):c.1632C>A (p.Ile544=) rs2228613 0.06881
NM_000521.4(HEXB):c.772-4A>G rs17561000 0.06806
NM_025219.3(DNAJC5):c.*1303C>T rs41278214 0.06711
NM_025219.3(DNAJC5):c.*2725G>A rs11554628 0.06691
NM_000784.4(CYP27A1):c.438G>A (p.Pro146=) rs692003 0.06494
NM_173500.4(TTBK2):c.*482C>G rs16957120 0.06388
NM_006946.4(SPTBN2):c.4899G>A (p.Leu1633=) rs639938 0.06187
NM_001909.5(CTSD):c.173C>T (p.Ala58Val) rs17571 0.06134
NM_001909.5(CTSD):c.231C>T (p.Ala77=) rs2230067 0.06127
NM_025219.3(DNAJC5):c.*2208C>T rs11554631 0.06117
NM_025219.3(DNAJC5):c.*2601C>T rs112103063 0.06085
NM_004960.4(FUS):c.190+9T>C rs73530283 0.06048
NM_004960.3(FUS):c.*1803C>T rs16956408 0.06040
NM_002739.5(PRKCG):c.*428C>G rs57483118 0.06034
NM_003560.4(PLA2G6):c.1086C>T (p.Asn362=) rs2413502 0.05955
NM_031448.6(C19orf12):c.*3336C>T rs10414583 0.05947
NM_000487.6(ARSA):c.459C>T (p.His153=) rs6151412 0.05937
NM_003560.4(PLA2G6):c.957G>A (p.Thr319=) rs11570679 0.05937
NM_001376.5(DYNC1H1):c.10950C>T (p.Asn3650=) rs17541505 0.05906
NM_033305.3(VPS13A):c.8571T>C (p.Tyr2857=) rs17340192 0.05788
NC_000014.9:g.73136423C>T rs1800839 0.05747
NM_000021.4(PSEN1):c.*2864A>C rs362389 0.05717
NM_001378452.1(ITPR1):c.*777C>T rs41315884 0.05676
NM_001378452.1(ITPR1):c.*847G>A rs41304181 0.05655
NM_033305.3(VPS13A):c.5583A>G (p.Thr1861=) rs17423984 0.05526
NM_001257180.2(SLC20A2):c.910G>A (p.Gly304Ser) rs73675069 0.05347
NM_000487.6(ARSA):c.585G>T (p.Trp195Cys) rs6151415 0.05295
NM_031448.6(C19orf12):c.*1145G>A rs62105840 0.05157
NM_000096.4(CP):c.782-14C>T rs34067682 0.05131
NM_000487.6(ARSA):c.*96A>G rs6151429 0.05120
NM_000520.6(HEXA):c.*630A>G rs35949555 0.05119
NM_031448.6(C19orf12):c.*2662C>T rs78094750 0.04826
NM_006946.4(SPTBN2):c.5340C>T (p.Asn1780=) rs623022 0.04821
NM_002087.4(GRN):c.835+7G>A rs72824736 0.04753
NM_001378452.1(ITPR1):c.1412+11C>T rs7632000 0.04752
NM_001376.5(DYNC1H1):c.*190A>G rs13901 0.04745
NM_000487.6(ARSA):c.1493G>A (p.Arg498His) rs6151428 0.04709
NM_018325.5(C9orf72):c.*248T>C rs73440933 0.04662
NM_004115.4(FGF14):c.*1664_*1666del rs141424596 0.04549
NM_000487.6(ARSA):c.*1746G>A rs73172277 0.04494
NM_000391.4(TPP1):c.441A>G (p.Glu147=) rs2555170 0.04313
NM_025000.4(DCAF17):c.939G>A (p.Gln313=) rs61731491 0.04289
NM_000096.4(CP):c.1950A>C (p.Gly650=) rs1053709 0.04222
NM_025000.4(DCAF17):c.*2473G>A rs57999878 0.04194
NM_001376.5(DYNC1H1):c.13372+4C>T rs17541657 0.04171
NM_002222.6(ITPR1):c.*1385A>G rs9875113 0.04159
NM_022089.4(ATP13A2):c.*124C>T rs15786 0.04122
NM_002739.5(PRKCG):c.*596C>T rs60891969 0.04062
NM_022089.4(ATP13A2):c.1005C>T (p.Ala335=) rs56290406 0.04044
NM_001378452.1(ITPR1):c.1412+13G>A rs11920643 0.04035
NM_022124.6(CDH23):c.9373T>C (p.Phe3125Leu) rs45583140 0.04021
NM_000487.6(ARSA):c.1149C>T (p.Asp383=) rs6151425 0.04013
NM_198994.3(TGM6):c.477C>T (p.Ser159=) rs16984872 0.03978
NM_022089.4(ATP13A2):c.3144C>G (p.Thr1048=) rs56126202 0.03793
NM_001376.5(DYNC1H1):c.*232C>T rs17512996 0.03685
NM_014043.4(CHMP2B):c.*1503G>C rs1060238 0.03503
NM_000021.4(PSEN1):c.*364T>C rs362385 0.03451
NM_000520.6(HEXA):c.1195A>G (p.Asn399Asp) rs1800430 0.03370
NM_000447.3(PSEN2):c.903G>T (p.Thr301=) rs6426553 0.03334
NM_002739.5(PRKCG):c.285C>T (p.Asp95=) rs17854523 0.03329
NM_004960.4(FUS):c.153C>T (p.Gly51=) rs61733962 0.03329
NM_002739.5(PRKCG):c.207C>T (p.Cys69=) rs307955 0.03300
NM_004960.3(FUS):c.*491T>G rs73530293 0.03268
NM_001378452.1(ITPR1):c.-81A>G rs13319720 0.03249
NM_004960.3(FUS):c.*2486G>A rs73530298 0.03248
NM_004960.3(FUS):c.*2794G>C rs17839571 0.03244
NM_002739.5(PRKCG):c.1497T>C (p.Phe499=) rs2242244 0.03204
NM_001376.5(DYNC1H1):c.7449C>T (p.Ile2483=) rs17541158 0.03068
NM_000096.4(CP):c.2991T>C (p.His997=) rs34394958 0.03057
NM_031448.6(C19orf12):c.*1020del rs200081218 0.03050
NM_000520.6(HEXA):c.9C>T (p.Ser3=) rs1800428 0.03048
NM_025000.4(DCAF17):c.555T>A (p.His185Gln) rs3731984 0.03047
NM_000447.3(PSEN2):c.708T>C (p.Ser236=) rs61730652 0.03044
NM_001376.5(DYNC1H1):c.7524A>G (p.Leu2508=) rs17541179 0.03009
NM_025000.4(DCAF17):c.*350G>A rs3795996 0.03008
NM_173500.4(TTBK2):c.3251C>T (p.Thr1084Met) rs34348991 0.02971
NM_198994.3(TGM6):c.422C>A (p.Ala141Glu) rs73894929 0.02857
NM_000487.6(ARSA):c.*1076A>T rs114833506 0.02807
NM_000487.6(ARSA):c.*1769A>G rs56788262 0.02807
NM_014043.4(CHMP2B):c.*1190G>T rs115892684 0.02804
NM_000487.6(ARSA):c.-136C>G rs6151408 0.02754
NM_001378452.1(ITPR1):c.*1156A>C rs73099961 0.02738
NM_000487.6(ARSA):c.*2374C>A rs11704557 0.02731
NM_000487.6(ARSA):c.*503A>G rs141494339 0.02726
NM_173500.4(TTBK2):c.*583A>T rs116853892 0.02725
NM_173500.4(TTBK2):c.*678A>G rs78237254 0.02688
NM_002087.4(GRN):c.384T>C (p.Asp128=) rs25646 0.02616
NM_004960.3(FUS):c.*910C>T rs118018900 0.02606
NM_025219.3(DNAJC5):c.*4007G>C rs77777268 0.02556
NM_007375.4(TARDBP):c.*208G>A rs148414479 0.02507
NM_000484.4(APP):c.1614T>C (p.Tyr538=) rs45537238 0.02492
NM_001378452.1(ITPR1):c.*643A>T rs41305987 0.02460
NM_000021.4(PSEN1):c.*3889G>A rs17125952 0.02429
NM_000487.6(ARSA):c.243C>T (p.Gly81=) rs6151410 0.02425
NM_001378452.1(ITPR1):c.*47G>C rs74998763 0.02401
NM_001378452.1(ITPR1):c.*48T>G rs77764633 0.02400
NM_033305.3(VPS13A):c.*942C>T rs1048743 0.02380
NM_033305.3(VPS13A):c.2964+13A>G rs115996561 0.02367
NM_000447.2(PSEN2):c.*536G>A rs16846619 0.02363
NM_000096.4(CP):c.*1157C>T rs11537809 0.02347
NM_006796.3(AFG3L2):c.1026+8G>A rs8091858 0.02347
NM_033305.3(VPS13A):c.3108T>C (p.Ile1036=) rs78046172 0.02340
NM_006749.4(SLC20A2):c.-534A>T rs113755761 0.02320
NM_033305.3(VPS13A):c.1020A>G (p.Glu340=) rs76751358 0.02305
NM_033305.3(VPS13A):c.2718A>G (p.Val906=) rs79287753 0.02299
NM_033305.3(VPS13A):c.4469G>A (p.Arg1490Lys) rs76077278 0.02297
NM_024411.5(PDYN):c.*369A>G rs73894108 0.02261
NM_002739.5(PRKCG):c.1404C>G (p.Leu468=) rs35079513 0.02248
NM_007375.4(TARDBP):c.*2331A>G rs114897688 0.02160
NM_000096.4(CP):c.1652C>T (p.Thr551Ile) rs61733458 0.02154
NM_004115.4(FGF14):c.*471A>C rs75498912 0.02130
NM_007126.5(VCP):c.*596C>T rs55745923 0.02117
NM_025000.4(DCAF17):c.*188T>A rs142315519 0.02083
NM_024411.5(PDYN):c.*556C>T rs73571349 0.02074
NM_022124.6(CDH23):c.9978C>T (p.Asn3326=) rs73277900 0.02056
NM_033305.3(VPS13A):c.4509A>G (p.Gln1503=) rs79914457 0.02054
NM_001378452.1(ITPR1):c.6696A>G (p.Lys2232=) rs34491089 0.02052
NM_001256054.3(C9orf72):c.-164T>C rs41272893 0.02049
NM_001378452.1(ITPR1):c.*1170C>A rs202059633 0.02047
NM_000096.4(CP):c.*137C>T rs34228141 0.02012
NM_001257180.2(SLC20A2):c.1011C>A (p.Thr337=) rs116359869 0.01957
NM_000391.4(TPP1):c.1266+5G>A rs1800753 0.01932
NM_001257180.2(SLC20A2):c.1254C>T (p.Gly418=) rs115234947 0.01931
NM_024411.5(PDYN):c.*138A>G rs111525766 0.01924
NM_006796.3(AFG3L2):c.*2G>A rs113981080 0.01903
NM_033305.3(VPS13A):c.2693T>C (p.Val898Ala) rs78048112 0.01850
NM_004115.4(FGF14):c.*1063G>A rs58555898 0.01834
NM_004960.3(FUS):c.*2393T>A rs541197027 0.01834
NM_025219.3(DNAJC5):c.*4385A>T rs77335831 0.01815
NM_033305.3(VPS13A):c.9382T>C (p.Leu3128=) rs34255276 0.01788
NM_025219.3(DNAJC5):c.*4300C>T rs41278224 0.01781
NM_004960.3(FUS):c.*989C>T rs114772555 0.01702
NM_025000.4(DCAF17):c.*3829G>A rs59827170 0.01646
NM_000784.4(CYP27A1):c.888A>G (p.Gln296=) rs61733619 0.01643
NM_001376.5(DYNC1H1):c.3993C>T (p.Gly1331=) rs17540957 0.01643
NM_025000.4(DCAF17):c.*2183C>G rs73976170 0.01636
NM_000021.4(PSEN1):c.1248+8T>C rs362382 0.01609
NM_000021.4(PSEN1):c.*3637C>T rs114000457 0.01606
NM_000021.4(PSEN1):c.*3360A>G rs362390 0.01605
NM_000021.4(PSEN1):c.*3525A>G rs362391 0.01605
NM_000021.4(PSEN1):c.*1690T>C rs10143618 0.01604
NM_000021.4(PSEN1):c.*2430T>C rs362388 0.01604
NM_006946.4(SPTBN2):c.5639G>A (p.Arg1880His) rs35532855 0.01604
NM_000033.4(ABCD1):c.*668C>T rs187420166 0.01599
NM_000021.4(PSEN1):c.*3823G>A rs362394 0.01595
NM_001257180.2(SLC20A2):c.*380C>T rs72643203 0.01547
NM_001257180.2(SLC20A2):c.1438G>A (p.Ala480Thr) rs79577461 0.01539
NM_000021.4(PSEN1):c.*4147T>G rs362396 0.01523
NM_025000.4(DCAF17):c.*1005A>G rs73976168 0.01517
NM_025000.4(DCAF17):c.*3712A>G rs74780004 0.01515
NM_004960.3(FUS):c.*1420C>T rs73530295 0.01500
NM_000021.4(PSEN1):c.953A>G (p.Glu318Gly) rs17125721 0.01497
NM_004960.4(FUS):c.1156C>A (p.Arg386=) rs61733965 0.01496
NM_004960.4(FUS):c.524-5C>T rs73530287 0.01495
NM_001376.5(DYNC1H1):c.3909G>A (p.Ala1303=) rs34690489 0.01481
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu) rs41272687 0.01478
NM_033305.3(VPS13A):c.9027A>G (p.Pro3009=) rs17081163 0.01458
NM_000447.3(PSEN2):c.-338A>G rs6665033 0.01457
NM_000520.5(HEXA):c.-167G>A rs77707876 0.01456
NM_001909.5(CTSD):c.*300G>A rs113940256 0.01455
NM_000096.4(CP):c.1099C>T (p.Arg367Cys) rs34624984 0.01447
NM_001376.5(DYNC1H1):c.6221+13G>T rs17541088 0.01447
NM_000096.4(CP):c.1209-15T>A rs35465173 0.01446
NM_001378452.1(ITPR1):c.4623C>T (p.Ser1541=) rs34748547 0.01444
NM_000447.3(PSEN2):c.441C>T (p.Ser147=) rs114334281 0.01441
NM_002778.4(PSAP):c.*775G>A rs79662404 0.01440
NM_031448.6(C19orf12):c.*2186C>T rs73548135 0.01436
NM_000447.3(PSEN2):c.185G>A (p.Arg62His) rs58973334 0.01433
NM_198994.3(TGM6):c.1342C>T (p.Arg448Trp) rs147979536 0.01429
NM_000520.6(HEXA):c.*575G>A rs76075374 0.01411
NM_198994.3(TGM6):c.989+11C>T rs6048684 0.01409
NM_033305.3(VPS13A):c.*1186A>G rs3177 0.01392
NM_033305.3(VPS13A):c.2391A>G (p.Pro797=) rs73466058 0.01375
NM_033305.3(VPS13A):c.5747G>A (p.Ser1916Asn) rs73467962 0.01369
NM_007126.5(VCP):c.18-5T>C rs114256093 0.01353
NM_000096.4(CP):c.*768T>C rs35805816 0.01348
NM_033305.3(VPS13A):c.5802A>G (p.Leu1934=) rs73654012 0.01345
NM_025219.3(DNAJC5):c.144C>T (p.Pro48=) rs113987077 0.01342
NM_017882.3(CLN6):c.486+8C>T rs149692285 0.01339
NM_025219.3(DNAJC5):c.*3670A>G rs77107548 0.01329
NM_033305.3(VPS13A):c.7155G>A (p.Glu2385=) rs73449933 0.01319
NM_004115.4(FGF14):c.481T>C (p.Leu161=) rs77082831 0.01311
NM_001378452.1(ITPR1):c.8166C>A (p.Gly2722=) rs73098087 0.01305
NM_002087.4(GRN):c.55C>T (p.Arg19Trp) rs63750723 0.01303
NM_006610.4(MASP2):c.1617T>C (p.Asn539=) rs72550845 0.01301
NM_000447.3(PSEN2):c.*487G>C rs7962 0.01294
NM_001909.5(CTSD):c.1215C>A (p.Gly405=) rs138733377 0.01277
NM_000484.4(APP):c.1299+9T>C rs114675472 0.01268
NM_025219.3(DNAJC5):c.*4117C>T rs11554630 0.01268
NM_022089.4(ATP13A2):c.1617G>T (p.Leu539=) rs61739752 0.01259
NM_001257180.2(SLC20A2):c.290-13C>A rs114824268 0.01256
NM_004960.4(FUS):c.-39A>G rs67676356 0.01242
NM_000096.4(CP):c.2378G>A (p.Arg793His) rs115552500 0.01239
NM_014043.4(CHMP2B):c.-102C>T rs36098294 0.01237
NM_033305.3(VPS13A):c.7806+6A>G rs74810255 0.01231
NM_000391.4(TPP1):c.*71G>A rs140680586 0.01221
NM_001909.5(CTSD):c.189C>T (p.Thr63=) rs114051835 0.01221
NM_022089.4(ATP13A2):c.881G>A (p.Arg294Gln) rs56367069 0.01203
NM_002778.4(PSAP):c.-10A>G rs76455588 0.01197
NM_000033.4(ABCD1):c.2019C>T (p.Phe673=) rs76637913 0.01192
NM_173500.4(TTBK2):c.3669C>T (p.His1223=) rs74398902 0.01170
NM_006946.4(SPTBN2):c.885+5T>C rs114331192 0.01156
NM_006946.4(SPTBN2):c.234G>A (p.Val78=) rs78309877 0.01155
NM_006946.4(SPTBN2):c.1011T>G (p.Leu337=) rs34275473 0.01154
NM_002103.5(GYS1):c.*841A>G rs75797604 0.01139
NM_001378452.1(ITPR1):c.*1185C>A rs867347513 0.01135
NM_001378452.1(ITPR1):c.438C>T (p.Ala146=) rs61741506 0.01135
NM_001130823.3(DNMT1):c.206G>A (p.Arg69His) rs61750053 0.01134
NM_003560.4(PLA2G6):c.*589C>G rs11570771 0.01112
NM_000033.4(ABCD1):c.*123C>T rs186542134 0.01092
NM_031448.6(C19orf12):c.*1666G>A rs116378078 0.01091
NM_031448.6(C19orf12):c.*1413G>A rs116160531 0.01090
NM_031448.6(C19orf12):c.*3571C>T rs74868577 0.01087
NM_031448.6(C19orf12):c.*579C>T rs116245746 0.01082
NM_017882.3(CLN6):c.34G>A (p.Ala12Thr) rs112239768 0.01081
NM_031448.6(C19orf12):c.*3372C>T rs117537955 0.01080
NM_006946.4(SPTBN2):c.*364C>T rs11828658 0.01074
NM_031448.6(C19orf12):c.*2691A>G rs113017735 0.01071
NM_031448.6(C19orf12):c.*3417C>T rs138368723 0.01071
NM_031448.6(C19orf12):c.*3217T>C rs769521665 0.01062
NM_031448.6(C19orf12):c.*791G>A rs111648332 0.01055
NM_031448.6(C19orf12):c.*2526del rs111753946 0.01054
NM_031448.6(C19orf12):c.*1880T>C rs112656442 0.01053
NM_031448.6(C19orf12):c.*541G>A rs112752558 0.01053
NM_031448.6(C19orf12):c.*471G>A rs112388598 0.01050
NM_031448.6(C19orf12):c.*814G>A rs112965744 0.01050
NM_031448.6(C19orf12):c.*1592A>G rs113641934 0.01049
NM_031448.6(C19orf12):c.*47T>C rs111959875 0.01048
NM_001378452.1(ITPR1):c.2305A>G (p.Met769Val) rs35789999 0.01046
NM_001378452.1(ITPR1):c.5353+4C>T rs60849754 0.01038
NM_024411.5(PDYN):c.*1396C>T rs6106013 0.01038
NM_001378452.1(ITPR1):c.1302G>A (p.Pro434=) rs34252981 0.01036
NM_014043.4(CHMP2B):c.*231T>C rs17189270 0.01035
NM_014043.4(CHMP2B):c.-151C>A rs77328592 0.01035
NM_031448.6(C19orf12):c.*2763A>G rs113735809 0.01028
NM_025219.3(DNAJC5):c.*895C>G rs1064345 0.01026
NM_000096.4(CP):c.2286-12T>G rs183671127 0.01016
NM_025000.4(DCAF17):c.*2348G>A rs112519318 0.01011
NM_004115.4(FGF14):c.*31G>A rs149661933 0.01007
NM_002087.4(GRN):c.*280G>A rs116547342 0.01005
NM_173500.4(TTBK2):c.2592A>G (p.Glu864=) rs56307230 0.01001
NM_000487.6(ARSA):c.624T>C (p.His208=) rs113990230 0.01000
NM_000391.4(TPP1):c.1044C>T (p.Ala348=) rs35706972 0.00982
NM_024411.5(PDYN):c.*1029A>G rs115095625 0.00982
NM_001130823.3(DNMT1):c.3939C>T (p.Gly1313=) rs142903301 0.00977
NM_006946.4(SPTBN2):c.7020G>A (p.Pro2340=) rs61741217 0.00966
NM_007126.5(VCP):c.*906A>G rs76360394 0.00965
NM_031448.6(C19orf12):c.*2956G>T rs113943151 0.00963
NM_001376.5(DYNC1H1):c.12159A>T (p.Gly4053=) rs115992196 0.00962
NM_001130823.3(DNMT1):c.290A>G (p.His97Arg) rs16999593 0.00959
NM_001376.5(DYNC1H1):c.7137G>A (p.Leu2379=) rs17512439 0.00956
NM_006946.4(SPTBN2):c.285C>T (p.Leu95=) rs34117933 0.00956
NM_031448.6(C19orf12):c.*3399_*3400insA rs113192583 0.00945
NM_033305.3(VPS13A):c.5917G>A (p.Val1973Ile) rs41289969 0.00944
NM_173500.4(TTBK2):c.*1162T>A rs79592696 0.00943
NM_000484.4(APP):c.*590C>A rs45455403 0.00936
NM_033305.3(VPS13A):c.2910A>G (p.Glu970=) rs115565179 0.00932
NM_001378452.1(ITPR1):c.2433T>A (p.Ile811=) rs145220403 0.00924
NM_000521.4(HEXB):c.1258A>G (p.Ile420Val) rs77499935 0.00923
NM_006796.3(AFG3L2):c.*109A>C rs114203162 0.00915
NM_002103.5(GYS1):c.1926G>A (p.Val642=) rs5451 0.00912
NM_000391.4(TPP1):c.1494C>T (p.Pro498=) rs117942457 0.00902
NM_001378452.1(ITPR1):c.3327+12C>T rs116022052 0.00894
NM_031448.6(C19orf12):c.*2784C>G rs147421675 0.00894
NM_003560.4(PLA2G6):c.1027G>A (p.Ala343Thr) rs11570680 0.00890
NM_000391.4(TPP1):c.299A>G (p.Gln100Arg) rs1800746 0.00889
NM_002739.5(PRKCG):c.*199C>T rs114091656 0.00888
NM_001042432.2(CLN3):c.*155A>C rs113112766 0.00886
NM_001386393.1(PANK2):c.*218A>G rs71647860 0.00876
NM_000096.4(CP):c.*509A>C rs13098532 0.00867
NM_000096.4(CP):c.*879A>C rs144029944 0.00863
NM_004960.3(FUS):c.*626G>A rs115626460 0.00863
NM_000484.4(APP):c.2133C>A (p.Val711=) rs116650065 0.00856
NM_001042432.2(CLN3):c.*99C>T rs113845299 0.00853
NM_002778.4(PSAP):c.78C>T (p.Thr26=) rs74145688 0.00850
NM_006749.4(SLC20A2):c.-592C>T rs145711927 0.00840
NM_006946.4(SPTBN2):c.3686A>G (p.His1229Arg) rs114788199 0.00819
NM_000391.4(TPP1):c.1117C>G (p.Gln373Glu) rs112812685 0.00817
NM_033305.3(VPS13A):c.9370C>A (p.His3124Asn) rs117983287 0.00817
NM_001378452.1(ITPR1):c.1251+10G>A rs75936691 0.00811
NM_001386393.1(PANK2):c.189C>G (p.Pro63=) rs71647829 0.00808
NM_000096.4(CP):c.3182-4A>G rs34272112 0.00805
NM_000784.3(CYP27A1):c.-370T>C rs182545847 0.00800
NM_001378452.1(ITPR1):c.3327+4G>A rs2306878 0.00785
NM_002778.3(PSAP):c.-65C>T rs145948209 0.00785
NM_002087.4(GRN):c.1544G>C (p.Gly515Ala) rs25647 0.00781
NM_002739.5(PRKCG):c.1722C>T (p.Tyr574=) rs34616316 0.00781
NM_002739.5(PRKCG):c.2059A>G (p.Ser687Gly) rs73937614 0.00778
NM_002778.4(PSAP):c.1452G>A (p.Ser484=) rs114389264 0.00778
NM_001376.5(DYNC1H1):c.2511A>G (p.Ala837=) rs17512054 0.00771
NM_024411.5(PDYN):c.*356T>C rs114429882 0.00768
NM_000021.4(PSEN1):c.*1381G>A rs362387 0.00765
NM_033305.3(VPS13A):c.228T>C (p.Thr76=) rs115443572 0.00762
NM_001378452.1(ITPR1):c.2204+13C>T rs141519515 0.00759
NM_000521.4(HEXB):c.214C>T (p.Leu72Phe) rs147155126 0.00758
NM_000484.3(APP):c.-156G>C rs45476095 0.00751
NM_000021.4(PSEN1):c.*3566A>G rs74061007 0.00746
NM_024411.5(PDYN):c.575A>T (p.Glu192Val) rs45469293 0.00742
NM_000021.4(PSEN1):c.*3358A>G rs74061006 0.00741
NM_198994.3(TGM6):c.1103G>A (p.Arg368Gln) rs75122556 0.00731
NM_198994.3(TGM6):c.42G>A (p.Ser14=) rs149394698 0.00719
NM_000487.6(ARSA):c.*992G>A rs376910590 0.00717
NM_004115.4(FGF14):c.*744C>A rs79379700 0.00714
NM_006946.4(SPTBN2):c.4985+11C>T rs11227572 0.00707
NM_198994.3(TGM6):c.1126G>A (p.Ala376Thr) rs79724097 0.00706
NM_014043.4(CHMP2B):c.560G>A (p.Ser187Asn) rs78268395 0.00705
NM_024411.5(PDYN):c.436A>C (p.Met146Leu) rs77155664 0.00698
NM_003560.4(PLA2G6):c.2340C>T (p.Asn780=) rs138683183 0.00691
NM_014043.4(CHMP2B):c.*1588C>T rs11426 0.00691
NM_022089.4(ATP13A2):c.145G>A (p.Gly49Ser) rs56379718 0.00681
NM_007375.4(TARDBP):c.675A>G (p.Pro225=) rs61741294 0.00675
NM_000306.4(POU1F1):c.666-5G>A rs76296626 0.00674
NM_000784.4(CYP27A1):c.-6C>T rs199891090 0.00673
NM_033305.3(VPS13A):c.8676C>T (p.Ile2892=) rs117485827 0.00672
NM_000484.4(APP):c.*967G>A rs45541739 0.00669
NM_007126.5(VCP):c.1082-9G>T rs12349922 0.00667
NM_002103.5(GYS1):c.*908G>A rs117997270 0.00664
NM_033305.3(VPS13A):c.8472-12C>T rs115077471 0.00651
NM_001909.5(CTSD):c.844G>A (p.Gly282Arg) rs147278302 0.00650
NM_024411.5(PDYN):c.*1443G>A rs148395893 0.00643
NM_033305.3(VPS13A):c.5625A>G (p.Leu1875=) rs146280301 0.00643
NM_033305.3(VPS13A):c.7053T>C (p.Ala2351=) rs139753431 0.00641
NM_000484.3(APP):c.*1125T>G rs45599935 0.00640
NM_033305.3(VPS13A):c.3813-15T>C rs145835861 0.00639
NM_002087.3(GRN):c.-72G>T rs76783532 0.00635
NM_198994.3(TGM6):c.1656C>T (p.Ala552=) rs75601099 0.00634
NM_002103.5(GYS1):c.2013C>T (p.Asp671=) rs5452 0.00624
NM_000447.3(PSEN2):c.756G>C (p.Ala252=) rs147702142 0.00621
NM_007126.5(VCP):c.1092C>T (p.Asp364=) rs61752947 0.00619
NM_033305.3(VPS13A):c.9400-15A>C rs117688596 0.00615
NM_006796.3(AFG3L2):c.-71C>T rs571340907 0.00605
NM_000096.4(CP):c.669G>C (p.Val223=) rs35438054 0.00599
NM_000521.4(HEXB):c.1051T>C (p.Leu351=) rs114661695 0.00596
NM_017882.3(CLN6):c.*667G>A rs111879561 0.00596
NM_001257180.2(SLC20A2):c.*113A>T rs115989387 0.00586
NM_001257180.2(SLC20A2):c.*112G>T rs114729286 0.00585
NM_022089.4(ATP13A2):c.1195+10G>A rs55689004 0.00585
NM_033305.3(VPS13A):c.3645C>A (p.Ala1215=) rs138687767 0.00582
NM_025219.3(DNAJC5):c.*3629A>G rs73136585 0.00578
NM_001378452.1(ITPR1):c.1536A>G (p.Glu512=) rs35047189 0.00575
NM_033305.3(VPS13A):c.6410A>G (p.Glu2137Gly) rs114232513 0.00574
NM_198994.3(TGM6):c.1657G>A (p.Val553Met) rs74338361 0.00574
NM_017882.3(CLN6):c.*646C>G rs144976448 0.00573
NM_002778.4(PSAP):c.*122C>G rs113284884 0.00572
NM_173500.4(TTBK2):c.*966C>T rs145576687 0.00571
NM_000521.4(HEXB):c.276C>T (p.Thr92=) rs140509633 0.00569
NM_025219.3(DNAJC5):c.*2878T>C rs749724 0.00565
NM_001909.5(CTSD):c.1072-7G>A rs149019571 0.00560
NM_006946.4(SPTBN2):c.6669G>A (p.Gly2223=) rs138819654 0.00560
NM_000096.4(CP):c.*474T>C rs34936395 0.00559
NM_000784.4(CYP27A1):c.921G>A (p.Val307=) rs147975335 0.00559
NM_033305.3(VPS13A):c.5673G>A (p.Ser1891=) rs114699935 0.00559
NM_004115.4(FGF14):c.*554G>A rs141793298 0.00557
NM_001130823.3(DNMT1):c.1500C>T (p.Ala500=) rs75443147 0.00552
NM_031448.6(C19orf12):c.-11+181T>C rs186970109 0.00552
NM_004960.4(FUS):c.*41G>A rs80301724 0.00551
NM_000391.4(TPP1):c.185C>T (p.Ser62Leu) rs2734715 0.00549
NM_017882.3(CLN6):c.298-6C>T rs117038427 0.00549
NM_001130823.3(DNMT1):c.2382-4C>T rs74505694 0.00548
NM_001376.5(DYNC1H1):c.7410G>A (p.Ala2470=) rs139109090 0.00548
NM_002087.4(GRN):c.264+7G>A rs60100877 0.00548
NM_017882.3(CLN6):c.*393G>A rs114833125 0.00546
NM_153638.4(PANK2):c.276G>A (p.Arg92=) rs142832849 0.00544
NM_033305.3(VPS13A):c.4760A>G (p.Tyr1587Cys) rs149840356 0.00532
NM_001257180.2(SLC20A2):c.909G>A (p.Ala303=) rs75248974 0.00528
NM_006946.4(SPTBN2):c.6723-14C>T rs186232313 0.00525
NM_000447.3(PSEN2):c.*405G>T rs116807339 0.00524
NM_000447.3(PSEN2):c.1176C>T (p.Phe392=) rs115652716 0.00524
NM_002087.4(GRN):c.1297C>T (p.Arg433Trp) rs63750412 0.00523
NM_018325.5(C9orf72):c.*1469T>A rs141012074 0.00519
NM_033305.3(VPS13A):c.8228A>C (p.Lys2743Thr) rs138308486 0.00517
NM_000033.4(ABCD1):c.901-10C>T rs2269365 0.00512
NM_022089.4(ATP13A2):c.*140C>G rs557545457 0.00509
NM_004960.3(FUS):c.*1148A>T rs140326191 0.00506
NM_000487.6(ARSA):c.-330C>T rs558023516 0.00504
NM_004960.3(FUS):c.*2443A>G rs189787862 0.00503
NM_001257180.2(SLC20A2):c.1008C>T (p.His336=) rs111553899 0.00499
NM_000784.4(CYP27A1):c.524C>T (p.Thr175Met) rs2229381 0.00498
NM_001378452.1(ITPR1):c.6510+7T>C rs115430385 0.00496
NM_001376.5(DYNC1H1):c.11765C>T (p.Pro3922Leu) rs141696238 0.00495
NM_006796.3(AFG3L2):c.-137G>C rs191000529 0.00494
NM_001909.5(CTSD):c.*19G>A rs201434721 0.00493
NM_025219.3(DNAJC5):c.*817C>T rs114525694 0.00491
NM_000520.5(HEXA):c.-59G>A rs147174351 0.00489
NM_033305.3(VPS13A):c.9150G>A (p.Pro3050=) rs143089318 0.00488
NM_033305.3(VPS13A):c.5979C>T (p.Arg1993=) rs41289971 0.00487
NM_022089.4(ATP13A2):c.2093T>C (p.Val698Ala) rs61734958 0.00485
NM_000096.4(CP):c.1275T>C (p.Tyr425=) rs34237139 0.00484
NM_002778.4(PSAP):c.204C>T (p.Asp68=) rs143981174 0.00484
NM_007126.5(VCP):c.*1001C>T rs192556285 0.00482
NM_006946.4(SPTBN2):c.3282G>A (p.Pro1094=) rs114241603 0.00477
NM_173500.4(TTBK2):c.2133C>A (p.Phe711Leu) rs76000738 0.00477
NM_000484.4(APP):c.1840A>G (p.Ser614Gly) rs112263157 0.00475
NM_017882.3(CLN6):c.769A>G (p.Ser257Gly) rs151295143 0.00475
NM_198994.3(TGM6):c.-2A>G rs80329336 0.00475
NM_033305.3(VPS13A):c.*1458T>G rs139050715 0.00474
NM_022089.4(ATP13A2):c.132A>G (p.Pro44=) rs200816691 0.00471
NM_001378452.1(ITPR1):c.2226G>A (p.Ala742=) rs41289636 0.00470
NM_000096.4(CP):c.1349-13T>C rs17847017 0.00469
NM_001909.5(CTSD):c.353-12C>T rs141523461 0.00468
NM_000096.4(CP):c.1348+9T>C rs35272481 0.00465
NM_000447.2(PSEN2):c.-400C>T rs186308126 0.00465
NM_031448.6(C19orf12):c.*1826G>T rs192407663 0.00461
NM_000391.4(TPP1):c.1253G>A (p.Arg418Gln) rs138744051 0.00456
NM_001257180.2(SLC20A2):c.1812C>T (p.Ala604=) rs116401889 0.00456
NM_000391.4(TPP1):c.*986C>G rs188148381 0.00455
NM_006610.4(MASP2):c.*184C>T rs115750484 0.00452
NM_001376.5(DYNC1H1):c.11685C>T (p.Thr3895=) rs17541519 0.00451
NM_001376.5(DYNC1H1):c.46T>C (p.Leu16=) rs2273437 0.00449
NM_025219.3(DNAJC5):c.*1364C>T rs61735744 0.00449
NM_001376.5(DYNC1H1):c.2625G>A (p.Ser875=) rs17512082 0.00448
NM_001376.5(DYNC1H1):c.7632A>G (p.Glu2544=) rs17512460 0.00447
NM_022124.6(CDH23):c.9758A>C (p.Asp3253Ala) rs140463385 0.00447
NM_173500.4(TTBK2):c.980+8C>A rs143836514 0.00447
NM_000021.4(PSEN1):c.*1791A>T rs177412 0.00446
NM_001376.5(DYNC1H1):c.-53G>A rs2273436 0.00446
NM_001376.5(DYNC1H1):c.-5A>G rs17511858 0.00446
NM_031448.6(C19orf12):c.392A>C (p.Lys131Thr) rs79915936 0.00444
NM_006946.4(SPTBN2):c.4447C>T (p.Arg1483Cys) rs115062978 0.00441
NM_000520.6(HEXA):c.673-13T>C rs75211071 0.00438
NM_198994.3(TGM6):c.12C>G (p.Ile4Met) rs139796716 0.00438
NM_000096.4(CP):c.2525A>G (p.Glu842Gly) rs149858116 0.00437
NM_000447.3(PSEN2):c.861C>T (p.Pro287=) rs75733498 0.00436
NM_001378452.1(ITPR1):c.4263C>G (p.His1421Gln) rs61757110 0.00436
NM_000096.4(CP):c.2522C>G (p.Thr841Arg) rs56033670 0.00435
NM_025000.4(DCAF17):c.*1521A>G rs77176791 0.00434
NM_173500.4(TTBK2):c.*1311G>A rs148272721 0.00429
NM_033305.3(VPS13A):c.3083A>G (p.Glu1028Gly) rs148656796 0.00425
NM_031448.6(C19orf12):c.*84C>T rs117867574 0.00423
NM_022089.4(ATP13A2):c.*120A>T rs41273151 0.00422
NM_022124.6(CDH23):c.*361C>A rs115033851 0.00420
NM_031448.6(C19orf12):c.*1170C>A rs75930446 0.00420
NM_001257180.2(SLC20A2):c.345G>A (p.Thr115=) rs34124953 0.00417
NM_025000.4(DCAF17):c.*677C>A rs115798465 0.00417
NM_033305.3(VPS13A):c.2037+8C>A rs41289961 0.00417
NM_000096.4(CP):c.*259C>T rs192321084 0.00414
NM_002103.5(GYS1):c.*450G>A rs3745693 0.00414
NM_031448.6(C19orf12):c.69G>A (p.Ala23=) rs201118405 0.00414
NM_000447.3(PSEN2):c.132T>A (p.Thr44=) rs143227762 0.00413
NM_198994.3(TGM6):c.1235G>A (p.Arg412His) rs142679146 0.00410
NM_022089.4(ATP13A2):c.*231G>A rs76298930 0.00409
NM_031448.6(C19orf12):c.*3304T>C rs547761506 0.00405
NM_001257180.2(SLC20A2):c.*263A>C rs145543019 0.00402
NM_025000.4(DCAF17):c.*1841G>T rs114519296 0.00399
NM_000521.4(HEXB):c.*40A>C rs184908092 0.00397
NM_033305.3(VPS13A):c.5884C>T (p.Arg1962Cys) rs149694033 0.00397
NM_025219.3(DNAJC5):c.*909G>T rs114038171 0.00395
NM_001378452.1(ITPR1):c.1480G>A (p.Val494Ile) rs41289628 0.00391
NM_000391.4(TPP1):c.*1540T>C rs374146578 0.00387
NM_022124.6(CDH23):c.*515C>A rs16929375 0.00385
NM_001376.5(DYNC1H1):c.4854T>C (p.Tyr1618=) rs75094258 0.00381
NM_022124.6(CDH23):c.9510+13C>T rs183692794 0.00379
NM_001130823.3(DNMT1):c.2463C>T (p.Leu821=) rs61750051 0.00377
NM_198994.3(TGM6):c.1580T>A (p.Val527Glu) rs61729226 0.00370
NM_017882.3(CLN6):c.*75G>C rs57058289 0.00367
NM_004960.3(FUS):c.*214C>T rs140875749 0.00361
NM_000487.6(ARSA):c.1002C>T (p.Ser334=) rs147027229 0.00358
NM_000033.4(ABCD1):c.696G>T (p.Ala232=) rs147595334 0.00357
NM_000784.3(CYP27A1):c.-205C>A rs187723732 0.00357
NM_004115.4(FGF14):c.*1259C>T rs535930764 0.00357
NM_002087.4(GRN):c.545C>T (p.Thr182Met) rs63750479 0.00356
NM_006946.4(SPTBN2):c.1161C>T (p.Arg387=) rs74909073 0.00352
NM_018325.5(C9orf72):c.1404C>T (p.Phe468=) rs141063383 0.00352
NM_000447.3(PSEN2):c.211C>T (p.Arg71Trp) rs140501902 0.00349
NM_000484.4(APP):c.2124C>T (p.Gly708=) rs148888161 0.00348
NM_198994.3(TGM6):c.481A>G (p.Ser161Gly) rs141930579 0.00348
NM_025219.3(DNAJC5):c.*1235C>T rs149675982 0.00347
NM_153638.4(PANK2):c.137A>T (p.Asp46Val) rs148036492 0.00346
NM_025219.3(DNAJC5):c.*3995A>G rs115323539 0.00344
NM_033305.3(VPS13A):c.2667+12G>A rs199995355 0.00342
NM_017882.3(CLN6):c.*934G>T rs114551417 0.00341
NM_022089.4(ATP13A2):c.2724G>A (p.Ser908=) rs79724242 0.00341
NM_022124.6(CDH23):c.9903C>T (p.Pro3301=) rs55717455 0.00341
NM_000391.4(TPP1):c.1396G>A (p.Val466Met) rs78970155 0.00339
NM_000484.4(APP):c.*914G>A rs736479 0.00338
NM_033305.3(VPS13A):c.101-7T>C rs190684534 0.00338
NM_002087.4(GRN):c.546G>A (p.Thr182=) rs138473783 0.00335
NM_002739.5(PRKCG):c.*427T>C rs886054615 0.00334
NM_018325.5(C9orf72):c.528T>C (p.Leu176=) rs34608611 0.00334
NM_025219.3(DNAJC5):c.*1342G>A rs41278218 0.00334
NM_001376.5(DYNC1H1):c.13219-9C>T rs17541650 0.00332
NM_001042465.2(PSAP):c.-118G>A rs28365838 0.00331
NM_018325.5(C9orf72):c.*837G>A rs80172172 0.00329
NM_002087.4(GRN):c.-38T>C rs530686556 0.00325
NM_004960.3(FUS):c.*1992A>C rs146490489 0.00325
NM_022089.4(ATP13A2):c.1614C>T (p.Pro538=) rs56351817 0.00324
NM_001376.5(DYNC1H1):c.8886+13G>A rs17541317 0.00322
NM_017882.3(CLN6):c.*655C>T rs571329883 0.00316
NM_001042432.2(CLN3):c.-129G>C rs141305257 0.00315
NM_025219.3(DNAJC5):c.132C>T (p.Pro44=) rs140948457 0.00314
NM_001042432.2(CLN3):c.313A>G (p.Ile105Val) rs11552531 0.00312
NM_007126.5(VCP):c.1360-14C>G rs144304208 0.00311
NM_025000.4(DCAF17):c.-204C>T rs147113116 0.00309
NM_001378452.1(ITPR1):c.6117G>A (p.Ala2039=) rs139528715 0.00306
NM_000021.4(PSEN1):c.*2580C>T rs117394753 0.00305
NM_001376.5(DYNC1H1):c.1587C>T (p.Asn529=) rs138418906 0.00302
NM_031448.6(C19orf12):c.*2117G>A rs184117483 0.00302
NM_014043.4(CHMP2B):c.34+8C>T rs35413339 0.00300
NM_001130823.3(DNMT1):c.891+8C>T rs117294281 0.00299
NM_007126.5(VCP):c.1704A>G (p.Gln568=) rs142577424 0.00296
NM_000487.6(ARSA):c.466-7G>C rs6151414 0.00294
NM_007375.4(TARDBP):c.198T>C (p.Ala66=) rs61730366 0.00292
NM_022124.6(CDH23):c.9501G>A (p.Thr3167=) rs144906721 0.00292
NM_025219.3(DNAJC5):c.*373G>A rs188304560 0.00290
NM_000487.6(ARSA):c.*2259G>A rs187444411 0.00289
NM_001257180.2(SLC20A2):c.933C>T (p.Tyr311=) rs115902470 0.00289
NM_001378452.1(ITPR1):c.2439G>A (p.Ser813=) rs35946460 0.00289
NM_000096.4(CP):c.2878+12T>G rs35848147 0.00288
NM_001376.5(DYNC1H1):c.11942C>G (p.Thr3981Arg) rs138428684 0.00288
NM_001376.5(DYNC1H1):c.5298G>T (p.Leu1766=) rs149395439 0.00286
NM_006946.4(SPTBN2):c.*546T>C rs539068045 0.00285
NM_002778.4(PSAP):c.1380C>T (p.Pro460=) rs1049882 0.00284
NM_173500.4(TTBK2):c.937A>G (p.Thr313Ala) rs56017612 0.00284
NM_000021.4(PSEN1):c.*4030A>G rs186752250 0.00283
NM_000487.6(ARSA):c.*191C>G rs537362532 0.00283
NM_001909.5(CTSD):c.912G>A (p.Pro304=) rs140238987 0.00281
NM_000520.6(HEXA):c.*76G>A rs558918292 0.00277
NM_006946.4(SPTBN2):c.5950-8G>A rs201759431 0.00277
NM_025000.4(DCAF17):c.*530A>G rs115676571 0.00277
NM_000021.4(PSEN1):c.*3941C>A rs144455736 0.00276
NM_001130823.2(DNMT1):c.*323C>G rs146694575 0.00273
NM_004960.3(FUS):c.*1998T>C rs182437252 0.00272
NM_007126.5(VCP):c.927C>T (p.Ile309=) rs34097935 0.00270
NM_173500.4(TTBK2):c.2210T>C (p.Ile737Thr) rs146515654 0.00267
NM_002778.4(PSAP):c.189C>T (p.Cys63=) rs111369573 0.00266
NM_001257180.2(SLC20A2):c.58T>C (p.Leu20=) rs115993270 0.00262
NM_031448.6(C19orf12):c.413A>G (p.Gln138Arg) rs73023451 0.00262
NM_000487.6(ARSA):c.659C>T (p.Pro220Leu) rs201251634 0.00261
NM_000391.4(TPP1):c.840G>C (p.Leu280=) rs140349036 0.00257
NM_001909.5(CTSD):c.*509C>T rs780680894 0.00255
NM_033305.3(VPS13A):c.775A>G (p.Asn259Asp) rs41307461 0.00255
NM_001130823.3(DNMT1):c.4503C>T (p.Cys1501=) rs149271718 0.00254
NM_004960.3(FUS):c.*2988C>T rs73530301 0.00254
NM_007126.5(VCP):c.-267C>T rs184152880 0.00252
NM_001130823.3(DNMT1):c.4428T>G (p.His1476Gln) rs142647321 0.00251
NM_004115.4(FGF14):c.*1118G>A rs147404825 0.00250
NM_001130823.3(DNMT1):c.1944C>T (p.Phe648=) rs61750052 0.00249
NM_003560.4(PLA2G6):c.972G>A (p.Ala324=) rs147755372 0.00249
NM_001378452.1(ITPR1):c.3894C>T (p.Asn1298=) rs182840163 0.00248
NM_025219.3(DNAJC5):c.*3204C>T rs140377993 0.00248
NM_000487.6(ARSA):c.1447G>A (p.Glu483Lys) rs148352371 0.00245
NM_001130823.3(DNMT1):c.996C>T (p.Asp332=) rs16999358 0.00243
NM_000096.4(CP):c.1430C>T (p.Pro477Leu) rs35331711 0.00242
NM_014043.4(CHMP2B):c.*1255G>T rs144167614 0.00241
NM_001130823.3(DNMT1):c.358G>C (p.Val120Leu) rs75616428 0.00240
NM_198994.3(TGM6):c.*87C>A rs45544131 0.00240
NM_025219.3(DNAJC5):c.*1820C>A rs182604967 0.00237
NM_000033.4(ABCD1):c.38A>C (p.Asn13Thr) rs183021839 0.00235
NM_000096.4(CP):c.322C>T (p.His108Tyr) rs34386552 0.00235
NM_001257180.2(SLC20A2):c.*120C>G rs569568894 0.00235
NM_000484.4(APP):c.*372A>G rs187940037 0.00231
NM_022089.4(ATP13A2):c.3342C>T (p.Thr1114=) rs115985012 0.00228
NM_022089.4(ATP13A2):c.1195+9C>T rs117758987 0.00227
NM_000447.3(PSEN2):c.*120G>A rs143059995 0.00226
NM_001378452.1(ITPR1):c.*979A>T rs147782346 0.00226
NM_000021.4(PSEN1):c.*672G>A rs192897390 0.00225
NM_000784.4(CYP27A1):c.243G>A (p.Leu81=) rs75897848 0.00225
NM_000021.4(PSEN1):c.*3495A>G rs141799841 0.00220
NM_022089.4(ATP13A2):c.*130C>T rs189334432 0.00217
NM_000391.4(TPP1):c.*1250T>A rs193029892 0.00215
NM_001378452.1(ITPR1):c.5265C>T (p.Asn1755=) rs61757111 0.00215
NM_000096.4(CP):c.993T>C (p.Pro331=) rs17847025 0.00213
NM_001378452.1(ITPR1):c.5621T>G (p.Val1874Gly) rs143093165 0.00213
NM_033305.3(VPS13A):c.4642G>A (p.Glu1548Lys) rs41289967 0.00213
NM_001257180.2(SLC20A2):c.1134G>T (p.Arg378=) rs114636687 0.00212
NM_006946.4(SPTBN2):c.1221C>T (p.His407=) rs143596433 0.00212
NM_001909.5(CTSD):c.951C>T (p.Ala317=) rs78306946 0.00211
NM_006796.3(AFG3L2):c.98A>C (p.Gln33Pro) rs777868371 0.00211
NM_001257180.2(SLC20A2):c.761G>A (p.Arg254Gln) rs138816265 0.00210
NM_000391.4(TPP1):c.293C>T (p.Thr98Met) rs140726254 0.00209
NM_025219.3(DNAJC5):c.*1183G>T rs562364964 0.00208
NM_033305.3(VPS13A):c.3356G>A (p.Gly1119Glu) rs144358567 0.00207
NM_000021.4(PSEN1):c.*449T>C rs112911413 0.00206
NM_018325.5(C9orf72):c.*1214T>C rs191690136 0.00205
NM_006946.4(SPTBN2):c.6896+11G>A rs141969559 0.00203
NM_018325.5(C9orf72):c.*1058G>T rs41272887 0.00203
NM_001378452.1(ITPR1):c.930G>A (p.Thr310=) rs28565126 0.00201
NM_004115.4(FGF14):c.*414T>C rs557390242 0.00200
NM_033305.3(VPS13A):c.1758T>C (p.Ala586=) rs149037185 0.00199
NM_000487.6(ARSA):c.-224C>G rs546035074 0.00197
NM_001909.5(CTSD):c.639C>G (p.Pro213=) rs146073498 0.00197
NM_004960.3(FUS):c.*687G>A rs549602004 0.00193
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser) rs76763715 0.00191
NM_001378452.1(ITPR1):c.7509T>C (p.Asp2503=) rs79720149 0.00191
NM_004115.4(FGF14):c.124G>T (p.Gly42Cys) rs141304687 0.00191
NM_002739.5(PRKCG):c.*670T>C rs186000310 0.00190
NM_033305.3(VPS13A):c.5831-8T>C rs113702270 0.00190
NM_000096.4(CP):c.2571C>T (p.Tyr857=) rs151304828 0.00189
NM_002739.5(PRKCG):c.1941C>T (p.Phe647=) rs2242243 0.00188
NM_000021.4(PSEN1):c.*2108G>A rs368329004 0.00187
NM_000096.4(CP):c.2793A>G (p.Leu931=) rs34987997 0.00186
NM_031448.6(C19orf12):c.*500G>A rs113415246 0.00186
NM_002778.4(PSAP):c.1056C>T (p.Ser352=) rs138328594 0.00185
NM_022124.6(CDH23):c.10026C>T (p.Asp3342=) rs377118941 0.00185
NM_000146.4(FTL):c.522C>T (p.His174=) rs73046709 0.00184
NM_025000.4(DCAF17):c.127-15C>A rs146556466 0.00184
NM_031448.6(C19orf12):c.*2778C>T rs80024917 0.00183
NM_033305.3(VPS13A):c.9078-7C>T rs186819389 0.00183
NM_001130823.3(DNMT1):c.150C>T (p.His50=) rs146112081 0.00182
NM_006796.3(AFG3L2):c.1664-9T>C rs200476229 0.00182
NM_022124.6(CDH23):c.*68G>C rs527311705 0.00182
NM_004960.4(FUS):c.675C>T (p.Gly225=) rs140003720 0.00179
NM_153638.4(PANK2):c.-11G>A rs71647826 0.00179
NM_001378452.1(ITPR1):c.*1196T>C rs565045968 0.00178
NM_033305.3(VPS13A):c.7457T>C (p.Ile2486Thr) rs141138349 0.00178
NM_025000.4(DCAF17):c.-111G>T rs80336595 0.00176
NM_000391.4(TPP1):c.*1570C>T rs369352772 0.00175
NM_001376.5(DYNC1H1):c.7239G>T (p.Leu2413=) rs138407720 0.00175
NM_025000.4(DCAF17):c.*2303G>A rs186143382 0.00175
NM_000096.4(CP):c.*1081T>A rs188137938 0.00174
NM_000520.6(HEXA):c.346+13C>T rs200871198 0.00173
NM_006946.4(SPTBN2):c.2526C>T (p.Gly842=) rs144939155 0.00173
NM_173500.4(TTBK2):c.1059C>T (p.Ser353=) rs200405805 0.00172
NM_007126.5(VCP):c.*1040T>C rs188935092 0.00171
NM_017882.3(CLN6):c.923G>C (p.Ser308Thr) rs143578698 0.00169
NM_001378452.1(ITPR1):c.3461A>G (p.Asp1154Gly) rs61751570 0.00168
NM_006946.4(SPTBN2):c.1434C>T (p.Ser478=) rs35463342 0.00168
NM_006946.4(SPTBN2):c.3429A>G (p.Leu1143=) rs35370566 0.00168
NM_025000.4(DCAF17):c.*3022A>G rs75833923 0.00168
NM_003560.4(PLA2G6):c.990C>T (p.Phe330=) rs146241431 0.00167
NM_007375.4(TARDBP):c.*1622A>T rs551513393 0.00167
NM_022124.6(CDH23):c.*478G>C rs564392413 0.00166
NM_002103.5(GYS1):c.*301G>A rs147489255 0.00165
NM_198994.3(TGM6):c.2052G>A (p.Val684=) rs149369357 0.00165
NM_001386393.1(PANK2):c.489G>A (p.Leu163=) rs71647837 0.00164
NM_002103.5(GYS1):c.1848C>T (p.Ala616=) rs145789213 0.00163
NM_022089.4(ATP13A2):c.3406-14C>T rs139088170 0.00163
NM_024411.5(PDYN):c.*1238A>T rs187098720 0.00163
NM_031448.6(C19orf12):c.*2893G>A rs571030466 0.00163
NM_000096.4(CP):c.*40C>T rs112764171 0.00162
NM_000096.4(CP):c.2684G>C (p.Gly895Ala) rs139633388 0.00162
NM_031448.6(C19orf12):c.*3400T>A rs182700680 0.00162
NM_173500.4(TTBK2):c.*1463G>A rs571544379 0.00160
NM_001909.5(CTSD):c.*210C>G rs528911846 0.00156
NM_001130823.3(DNMT1):c.2117+13G>A rs112660071 0.00153
NM_007126.5(VCP):c.79A>G (p.Ile27Val) rs140913250 0.00151
NM_000096.4(CP):c.347C>A (p.Pro116His) rs73866999 0.00150
NM_033305.3(VPS13A):c.-148C>T rs555695029 0.00150
NM_004115.4(FGF14):c.636T>C (p.His212=) rs41281644 0.00149
NM_198994.3(TGM6):c.1523G>A (p.Gly508Asp) rs140719871 0.00149
NM_001378452.1(ITPR1):c.2007-3T>C rs200335594 0.00148
NM_025219.3(DNAJC5):c.*158A>T rs41278210 0.00148
NM_018325.5(C9orf72):c.288A>G (p.Ser96=) rs147752518 0.00146
NM_007375.4(TARDBP):c.*1008T>G rs141412238 0.00145
NM_000447.3(PSEN2):c.-82T>C rs200607063 0.00144
NM_001386393.1(PANK2):c.*382C>T rs71647861 0.00144
NM_000484.4(APP):c.1795G>A (p.Glu599Lys) rs140304729 0.00143
NM_001378452.1(ITPR1):c.3207C>T (p.Thr1069=) rs186541002 0.00143
NM_025000.4(DCAF17):c.1320T>C (p.Ala440=) rs3731980 0.00143
NM_033305.3(VPS13A):c.2170+13T>C rs183087425 0.00143
NM_014043.4(CHMP2B):c.*899T>A rs186472338 0.00142
NM_173500.4(TTBK2):c.*581A>T rs575564250 0.00142
NM_017882.3(CLN6):c.339G>A (p.Thr113=) rs146135801 0.00141
NM_017882.3(CLN6):c.214G>C (p.Glu72Gln) rs104894483 0.00140
NM_025219.3(DNAJC5):c.*750G>T rs140106848 0.00140
NM_173500.4(TTBK2):c.3185C>T (p.Thr1062Ile) rs55833708 0.00138
NM_000021.4(PSEN1):c.*3508G>A rs150550252 0.00137
NM_001376.5(DYNC1H1):c.5001C>T (p.Asn1667=) rs117199211 0.00137
NM_173500.4(TTBK2):c.3331C>G (p.Leu1111Val) rs144199562 0.00136
NM_198994.3(TGM6):c.1995G>C (p.Arg665Ser) rs138807504 0.00136
NM_025219.3(DNAJC5):c.*195G>A rs180676568 0.00135
NM_198994.3(TGM6):c.1216G>A (p.Glu406Lys) rs144338465 0.00135
NM_006946.4(SPTBN2):c.1654-13G>A rs200980512 0.00134
NM_033305.3(VPS13A):c.4927G>A (p.Asp1643Asn) rs74622901 0.00134
NM_000391.4(TPP1):c.14C>A (p.Ala5Asp) rs138976576 0.00133
NM_006796.3(AFG3L2):c.-32C>T rs556432963 0.00133
NM_022124.6(CDH23):c.*434G>A rs529522213 0.00133
NM_001130823.3(DNMT1):c.*165T>G rs192952800 0.00132
NM_001376.5(DYNC1H1):c.8304G>A (p.Pro2768=) rs77113510 0.00132
NM_006946.4(SPTBN2):c.1807+13C>T rs151122248 0.00132
NM_022124.6(CDH23):c.*430A>T rs562268606 0.00131
NM_024411.5(PDYN):c.*1071G>A rs752953257 0.00129
NM_000784.3(CYP27A1):c.-335C>T rs528284503 0.00128
NM_022089.4(ATP13A2):c.706-14C>T rs371532404 0.00128
NM_022089.4(ATP13A2):c.2859G>A (p.Thr953=) rs144557304 0.00127
NM_000021.4(PSEN1):c.*4113G>A rs190718487 0.00125
NM_001376.5(DYNC1H1):c.2721T>C (p.Ile907=) rs114021657 0.00125
NM_001376.5(DYNC1H1):c.7458G>T (p.Leu2486=) rs17541165 0.00125
NM_006946.4(SPTBN2):c.*71G>A rs572522164 0.00125
NM_025219.3(DNAJC5):c.*1433G>A rs41278220 0.00125
NM_006796.3(AFG3L2):c.114+12C>T rs758470020 0.00124
NM_014043.4(CHMP2B):c.*1610C>T rs191312397 0.00124
NM_173500.4(TTBK2):c.2941C>G (p.Leu981Val) rs180791005 0.00124
NM_001130823.3(DNMT1):c.768+12T>A rs189898346 0.00123
NM_004960.3(FUS):c.*2005G>T rs140979886 0.00123
NM_003560.4(PLA2G6):c.-20C>A rs191263821 0.00121
NM_001378452.1(ITPR1):c.4837T>C (p.Leu1613=) rs367643585 0.00120
NM_001378452.1(ITPR1):c.4843-8C>T rs41304179 0.00119
NM_018325.5(C9orf72):c.*914A>G rs561651779 0.00118
NM_001909.5(CTSD):c.*694G>A rs751538234 0.00116
NM_022089.4(ATP13A2):c.-170C>T rs150122517 0.00116
NM_000484.4(APP):c.2217C>T (p.Asp739=) rs145277462 0.00115
NM_000487.6(ARSA):c.*332C>T rs780413907 0.00115
NM_001042432.2(CLN3):c.318C>T (p.Leu106=) rs148248159 0.00115
NM_025219.3(DNAJC5):c.*1220G>A rs73136582 0.00115
NM_153638.4(PANK2):c.281G>C (p.Arg94Pro) rs71647827 0.00115
NM_000033.4(ABCD1):c.707G>A (p.Arg236His) rs201455322 0.00114
NM_025000.4(DCAF17):c.*1034G>A rs3731979 0.00114
NM_025000.4(DCAF17):c.*378T>C rs3795997 0.00114
NM_025000.4(DCAF17):c.*2971A>G rs576169953 0.00113
NM_033305.3(VPS13A):c.4041C>T (p.Ala1347=) rs74983687 0.00113
NM_002087.4(GRN):c.970G>A (p.Ala324Thr) rs63750541 0.00112
NM_025219.3(DNAJC5):c.*1556A>G rs58526294 0.00108
NM_001130823.3(DNMT1):c.493+8C>T rs138998574 0.00107
NM_001378452.1(ITPR1):c.4254G>T (p.Val1418=) rs142527379 0.00107
NM_025219.3(DNAJC5):c.*3269C>G rs528394634 0.00107
NM_025219.3(DNAJC5):c.*2218A>G rs142121195 0.00106
NM_001042432.2(CLN3):c.768C>T (p.Thr256=) rs145967477 0.00103
NM_001376.5(DYNC1H1):c.13440C>T (p.Ser4480=) rs150286673 0.00103
NM_033305.3(VPS13A):c.5292G>T (p.Leu1764=) rs141528779 0.00103
NM_001378452.1(ITPR1):c.*1198C>T rs367636150 0.00102
NM_001378452.1(ITPR1):c.4288A>G (p.Ile1430Val) rs3749383 0.00102
NM_006796.3(AFG3L2):c.1319-7C>T rs182327153 0.00102
NM_006946.4(SPTBN2):c.1972C>T (p.Arg658Trp) rs199968321 0.00102
NM_025219.3(DNAJC5):c.-109A>G rs750302498 0.00102
NM_017882.3(CLN6):c.*1103G>A rs147362516 0.00101
NM_025219.3(DNAJC5):c.*2790C>T rs55665472 0.00101
NM_025219.3(DNAJC5):c.107+10C>T rs181906972 0.00101
NM_000484.3(APP):c.-200G>A rs200621906 0.00100
NM_000484.4(APP):c.*624A>G rs199680232 0.00100
NM_000520.6(HEXA):c.1107C>T (p.Gly369=) rs140337137 0.00100
NM_006946.4(SPTBN2):c.1722G>A (p.Glu574=) rs143083152 0.00100
NM_000096.3(CP):c.-183T>C rs185578646 0.00099
NM_000487.6(ARSA):c.*729C>T rs191335867 0.00099
NM_002739.5(PRKCG):c.642G>A (p.Thr214=) rs77550964 0.00099
NM_001130823.3(DNMT1):c.*287T>C rs189422259 0.00098
NM_002103.5(GYS1):c.*421A>G rs181566066 0.00098
NM_006946.4(SPTBN2):c.4985+12G>A rs199692345 0.00098
NM_033305.3(VPS13A):c.101-14T>G rs202024224 0.00098
NM_001042432.1(CLN3):c.-264C>G rs187163584 0.00096
NM_001376.5(DYNC1H1):c.5295A>G (p.Ala1765=) rs139919955 0.00096
NM_002087.4(GRN):c.*246A>G rs552375884 0.00096
NM_031448.6(C19orf12):c.313G>A (p.Val105Met) rs146492790 0.00096
NM_033305.3(VPS13A):c.5265C>T (p.Gly1755=) rs143021112 0.00096
NM_173500.3(TTBK2):c.-413G>C rs528520159 0.00096
NM_003560.4(PLA2G6):c.*301G>A rs11570769 0.00095
NM_004960.4(FUS):c.1566G>A (p.Arg522=) rs138901914 0.00095
NM_033305.3(VPS13A):c.*279A>T rs191865643 0.00095
NM_000447.3(PSEN2):c.366G>A (p.Thr122=) rs148996705 0.00094
NM_173500.4(TTBK2):c.3329G>A (p.Arg1110His) rs146279300 0.00094
NM_000484.4(APP):c.-44C>T rs200289921 0.00093
NM_033305.3(VPS13A):c.2814A>G (p.Pro938=) rs145346590 0.00093
NM_173500.4(TTBK2):c.*1153G>A rs781080005 0.00093
NM_003560.4(PLA2G6):c.1615G>A (p.Gly539Ser) rs143826762 0.00092
NM_018325.5(C9orf72):c.*174C>T rs146530591 0.00092
NM_022089.4(ATP13A2):c.2836A>T (p.Ile946Phe) rs55708915 0.00091
NM_022089.4(ATP13A2):c.951C>T (p.Cys317=) rs148391179 0.00091
NM_001378452.1(ITPR1):c.3057A>G (p.Ser1019=) rs200705345 0.00090
NM_002778.4(PSAP):c.174+9C>T rs141133813 0.00090
NM_006946.4(SPTBN2):c.6797C>T (p.Ala2266Val) rs145891813 0.00089
NM_001376.5(DYNC1H1):c.13764G>A (p.Thr4588=) rs35079638 0.00088
NM_006796.3(AFG3L2):c.400-14C>G rs192002414 0.00088
NM_007126.5(VCP):c.*12C>T rs62544156 0.00088
NM_000520.6(HEXA):c.1527-6T>C rs199914308 0.00087
NM_001376.5(DYNC1H1):c.10065T>C (p.Ser3355=) rs80096622 0.00087
NM_006796.3(AFG3L2):c.-92T>C rs574201536 0.00087
NM_000447.3(PSEN2):c.*306G>A rs145129440 0.00086
NM_002087.4(GRN):c.228C>T (p.Thr76=) rs144736470 0.00086
NM_025000.4(DCAF17):c.*1370C>T rs565065854 0.00085
NM_033305.3(VPS13A):c.*933A>G rs561135773 0.00085
NM_018325.5(C9orf72):c.*1024A>G rs563194682 0.00084
NM_031448.6(C19orf12):c.*1226C>T rs775550079 0.00084
NM_000784.4(CYP27A1):c.703G>A (p.Glu235Lys) rs149897566 0.00083
NM_002103.5(GYS1):c.*868A>G rs571576339 0.00083
NM_000484.4(APP):c.2212-10T>C rs45513597 0.00081
NM_004960.4(FUS):c.-47G>A rs72550864 0.00081
NM_006946.4(SPTBN2):c.157+5G>A rs150159444 0.00081
NM_022089.4(ATP13A2):c.1309C>G (p.Leu437Val) rs149372969 0.00081
NM_024411.4(PDYN):c.-382C>T rs188187030 0.00081
NM_000021.4(PSEN1):c.*166T>A rs192302611 0.00080
NM_000033.4(ABCD1):c.2190G>A (p.Pro730=) rs193922096 0.00080
NM_000521.4(HEXB):c.1082+13C>T rs201428805 0.00080
NM_198994.3(TGM6):c.245G>C (p.Gly82Ala) rs144094215 0.00080
NM_014043.4(CHMP2B):c.*864G>A rs181777395 0.00079
NM_025219.3(DNAJC5):c.*4006C>T rs138866062 0.00079
NM_001376.5(DYNC1H1):c.2719-6C>T rs199763298 0.00078
NM_001378452.1(ITPR1):c.5466C>T (p.Asn1822=) rs113368815 0.00078
NM_025219.3(DNAJC5):c.*736G>A rs552739074 0.00078
NM_001378452.1(ITPR1):c.3765C>T (p.Cys1255=) rs140402012 0.00077
NM_025000.4(DCAF17):c.*2976A>G rs78561668 0.00077
NM_002087.4(GRN):c.359C>A (p.Ser120Tyr) rs63750043 0.00076
NM_002778.4(PSAP):c.714C>G (p.Ala238=) rs141199649 0.00076
NM_004960.3(FUS):c.*335G>T rs192206514 0.00076
NM_025219.3(DNAJC5):c.*4065G>A rs373099874 0.00076
NM_004960.4(FUS):c.1464C>T (p.Gly488=) rs150529460 0.00075
NM_022089.4(ATP13A2):c.106-8G>A rs200587951 0.00075
NM_000021.4(PSEN1):c.*328C>T rs200067194 0.00074
NM_000487.6(ARSA):c.*1213T>G rs886057649 0.00074
NM_025219.3(DNAJC5):c.107+12A>G rs372843187 0.00074
NM_000447.3(PSEN2):c.389C>T (p.Ser130Leu) rs63750197 0.00073
NM_006796.3(AFG3L2):c.*379T>A rs150224434 0.00073
NM_007375.4(TARDBP):c.*343G>A rs555353123 0.00073
NM_025219.3(DNAJC5):c.*2039C>T rs79245733 0.00073
NM_001378452.1(ITPR1):c.7099G>A (p.Ala2367Thr) rs201144431 0.00071
NM_004960.3(FUS):c.*721A>G rs558776704 0.00071
NM_025219.3(DNAJC5):c.*3413A>G rs150408300 0.00071
NM_003560.4(PLA2G6):c.*541C>T rs45473603 0.00070
NM_173500.4(TTBK2):c.-321C>A rs760435890 0.00070
NM_000484.4(APP):c.1305C>T (p.Phe435=) rs148180403 0.00069
NM_006796.3(AFG3L2):c.793G>A (p.Ala265Thr) rs149605021 0.00069
NM_000033.4(ABCD1):c.-202C>G rs781978041 0.00067
NM_001130823.3(DNMT1):c.2472G>A (p.Thr824=) rs45484792 0.00067
NM_001909.5(CTSD):c.8C>T (p.Pro3Leu) rs757712173 0.00067
NM_004115.4(FGF14):c.*974G>A rs886049934 0.00067
NM_006946.4(SPTBN2):c.3116G>A (p.Arg1039Gln) rs148826890 0.00067
NM_001130823.3(DNMT1):c.731G>A (p.Gly244Glu) rs150999369 0.00066
NM_001257180.2(SLC20A2):c.*926C>T rs575143642 0.00066
NM_001378452.1(ITPR1):c.1926C>T (p.Asn642=) rs61757106 0.00066
NM_003560.2(PLA2G6):c.*672G>A rs572000246 0.00066
NM_025219.3(DNAJC5):c.45A>G (p.Ser15=) rs144141585 0.00066
NM_001042432.2(CLN3):c.*55C>A rs199979207 0.00065
NM_001376.5(DYNC1H1):c.*194C>T rs566606862 0.00064
NM_007126.5(VCP):c.1584C>T (p.Ala528=) rs147623367 0.00064
NM_025000.4(DCAF17):c.792T>C (p.Thr264=) rs199742600 0.00064
NM_000033.4(ABCD1):c.*985C>G rs782309410 0.00063
NM_001257180.2(SLC20A2):c.290-5T>C rs371924916 0.00063
NM_001376.5(DYNC1H1):c.3495T>C (p.Asp1165=) rs144359313 0.00063
NM_001378452.1(ITPR1):c.3660G>A (p.Ala1220=) rs199960483 0.00063
NM_001378452.1(ITPR1):c.6912G>A (p.Pro2304=) rs200426774 0.00063
NM_000391.4(TPP1):c.*829C>T rs533616443 0.00062
NM_000521.4(HEXB):c.1417+11C>T rs146572414 0.00062
NM_004115.4(FGF14):c.*1220_*1223dup rs546246953 0.00062
NM_000033.4(ABCD1):c.258C>T (p.Val86=) rs200660869 0.00061
NM_000487.6(ARSA):c.-131G>A rs551316995 0.00061
NM_006946.4(SPTBN2):c.6751C>T (p.Arg2251Trp) rs150607879 0.00061
NM_033305.3(VPS13A):c.2201G>A (p.Ser734Asn) rs117320408 0.00061
NM_033305.3(VPS13A):c.6096-7C>T rs190144287 0.00061
NM_173500.4(TTBK2):c.*580T>A rs544516599 0.00061
NM_000487.6(ARSA):c.*103C>T rs146160737 0.00060
NM_017882.3(CLN6):c.*312C>T rs747144655 0.00060
NM_025219.3(DNAJC5):c.*3480G>C rs577249426 0.00060
NM_001376.5(DYNC1H1):c.12258C>T (p.Thr4086=) rs141242095 0.00059
NM_001376.5(DYNC1H1):c.5050-15T>C rs190979027 0.00059
NM_001376.5(DYNC1H1):c.5985C>T (p.Ala1995=) rs140841480 0.00059
NM_002739.5(PRKCG):c.1836C>T (p.Gly612=) rs56211557 0.00059
NM_025000.4(DCAF17):c.*1692G>C rs903874983 0.00059
NM_025000.4(DCAF17):c.724G>A (p.Ala242Thr) rs149650431 0.00059
NM_004960.3(FUS):c.*561C>T rs192705444 0.00058
NM_173500.4(TTBK2):c.*744G>A rs769283772 0.00058
NM_001257180.2(SLC20A2):c.-89A>G rs185590768 0.00057
NM_001386393.1(PANK2):c.298+15G>C rs566953264 0.00057
NM_002087.3(GRN):c.-45C>G rs563336550 0.00057
NM_025000.4(DCAF17):c.1030T>C (p.Trp344Arg) rs78488864 0.00057
NM_025000.4(DCAF17):c.184G>A (p.Glu62Lys) rs201346228 0.00057
NM_001256047.1(C19orf12):c.*3833T>A rs112945856 0.00056
NM_001376.5(DYNC1H1):c.10440G>A (p.Lys3480=) rs138887857 0.00056
NM_001376.5(DYNC1H1):c.8784A>G (p.Gln2928=) rs149753029 0.00056
NM_004960.4(FUS):c.198T>C (p.Tyr66=) rs144853447 0.00056
NM_004960.4(FUS):c.404G>A (p.Ser135Asn) rs61732970 0.00056
NM_198994.3(TGM6):c.1011G>A (p.Glu337=) rs142832802 0.00056
NM_000487.6(ARSA):c.*1969C>A rs556167510 0.00055
NM_001378452.1(ITPR1):c.*121G>C rs146903558 0.00055
NM_001386393.1(PANK2):c.*541C>T rs886056655 0.00055
NM_002778.4(PSAP):c.41-13G>C rs138010978 0.00055
NM_014043.4(CHMP2B):c.*1408A>G rs183429826 0.00055
NM_000520.5(HEXA):c.-136G>A rs561320483 0.00054
NM_006946.4(SPTBN2):c.-22-10C>A rs200435327 0.00054
NM_018325.5(C9orf72):c.*602A>G rs567258799 0.00054
NM_022089.4(ATP13A2):c.106-14C>T rs199706883 0.00054
NM_000021.4(PSEN1):c.*71A>G rs201452973 0.00053
NM_000021.4(PSEN1):c.-191C>T rs199680675 0.00053
NM_000391.4(TPP1):c.509-1G>C rs56144125 0.00053
NM_000784.4(CYP27A1):c.276C>T (p.Tyr92=) rs141519183 0.00053
NM_001376.5(DYNC1H1):c.345-10T>G rs202110844 0.00053
NM_004115.4(FGF14):c.*553C>T rs150580343 0.00053
NM_007375.3(TARDBP):c.-110C>T rs577981181 0.00053
NM_007375.4(TARDBP):c.*1081C>T rs184303021 0.00053
NM_022124.6(CDH23):c.9942G>A (p.Thr3314=) rs376804660 0.00053
NM_007126.5(VCP):c.*4G>T rs201091341 0.00052
NM_000391.4(TPP1):c.1241A>T (p.Asn414Ile) rs146798796 0.00051
NM_000484.3(APP):c.-199G>A rs761755102 0.00051
NM_000487.6(ARSA):c.-159C>T rs6151407 0.00051
NM_000521.4(HEXB):c.715G>A (p.Val239Ile) rs145056714 0.00051
NM_001378452.1(ITPR1):c.3945T>C (p.Asn1315=) rs193212750 0.00051
NM_002778.4(PSAP):c.88G>T (p.Ala30Ser) rs144942998 0.00051
NM_006749.5(SLC20A2):c.-389G>A rs574357175 0.00051
NM_007375.4(TARDBP):c.*1623T>A rs566657331 0.00051
NM_022089.4(ATP13A2):c.3405+9C>T rs374766933 0.00051
NM_024411.5(PDYN):c.*103C>T rs555671052 0.00051
NM_025000.4(DCAF17):c.*1965A>G rs569108215 0.00051
NM_000447.3(PSEN2):c.336C>T (p.Tyr112=) rs200610057 0.00050
NM_000484.4(APP):c.1810G>A (p.Val604Met) rs199887707 0.00050
NM_000520.6(HEXA):c.-4G>A rs766510036 0.00050
NM_022089.4(ATP13A2):c.2331C>T (p.His777=) rs144708504 0.00050
NM_025219.3(DNAJC5):c.*1630C>T rs527390994 0.00050
NM_000021.4(PSEN1):c.*230G>T rs200692223 0.00049
NM_000021.4(PSEN1):c.*807G>A rs202083888 0.00049
NM_000096.4(CP):c.2554+8C>T rs749646388 0.00049
NM_017882.3(CLN6):c.487-15C>T rs200775021 0.00049
NM_024411.5(PDYN):c.*231C>G rs565210312 0.00049
NM_000447.3(PSEN2):c.-184C>T rs149590162 0.00048
NM_001378452.1(ITPR1):c.4421C>T (p.Thr1474Ile) rs188558398 0.00048
NM_001378452.1(ITPR1):c.66G>A (p.Ser22=) rs112944532 0.00048
NM_006796.3(AFG3L2):c.*221A>G rs886053613 0.00048
NM_014043.4(CHMP2B):c.*744C>A rs185167991 0.00048
NM_000033.4(ABCD1):c.41C>G (p.Thr14Arg) rs782161942 0.00047
NM_000487.6(ARSA):c.*1212T>G rs868201030 0.00047
NM_031448.6(C19orf12):c.*1557T>C rs116963085 0.00047
NM_000021.4(PSEN1):c.-180C>T rs200632899 0.00046
NM_000484.4(APP):c.*489A>G rs199862130 0.00046
NM_000487.6(ARSA):c.465+1G>A rs80338815 0.00046
NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs) rs387906309 0.00046
NM_000521.4(HEXB):c.1250C>T (p.Pro417Leu) rs28942073 0.00046
NM_002739.5(PRKCG):c.*622C>G rs1032868211 0.00046
NM_007375.4(TARDBP):c.*2154G>T rs886045048 0.00046
NM_033305.3(VPS13A):c.7920A>G (p.Gln2640=) rs200387635 0.00046
NM_198994.3(TGM6):c.1452C>T (p.Asp484=) rs142748417 0.00046
NM_000484.4(APP):c.663-9C>A rs199587668 0.00045
NM_001042432.2(CLN3):c.831G>A (p.Val277=) rs1142183 0.00045
NM_001376.5(DYNC1H1):c.10908+10G>A rs201277756 0.00045
NM_001378452.1(ITPR1):c.*942G>T rs41308218 0.00044
NM_001378452.1(ITPR1):c.2732C>T (p.Ala911Val) rs201519806 0.00044
NM_002087.4(GRN):c.903G>A (p.Ser301=) rs63750142 0.00044
NM_002222.6(ITPR1):c.*1533G>A rs377290142 0.00044
NM_003560.4(PLA2G6):c.966C>T (p.His322=) rs144033740 0.00044
NM_022089.4(ATP13A2):c.746C>T (p.Ala249Val) rs145515028 0.00044
NM_033305.3(VPS13A):c.2667+11C>T rs375898960 0.00044
NM_000484.4(APP):c.592T>C (p.Ser198Pro) rs145081708 0.00043
NM_007126.5(VCP):c.*367G>A rs768675930 0.00043
NM_025000.4(DCAF17):c.*2312G>A rs777311799 0.00043
NM_025000.4(DCAF17):c.*2591A>G rs748228250 0.00043
NM_033305.3(VPS13A):c.*185A>G rs773434698 0.00043
NM_000096.4(CP):c.2446G>A (p.Val816Ile) rs139058165 0.00042
NM_000391.4(TPP1):c.*1282C>A rs1032115129 0.00042
NM_000520.6(HEXA):c.*436C>T rs112626309 0.00042
NM_001376.5(DYNC1H1):c.13181C>T (p.Thr4394Met) rs149300055 0.00042
NM_017882.3(CLN6):c.5A>G (p.Glu2Gly) rs3743088 0.00042
NM_000021.4(PSEN1):c.1017A>G (p.Glu339=) rs201776669 0.00041
NM_000096.4(CP):c.788A>G (p.Asn263Ser) rs150303869 0.00041
NM_000391.4(TPP1):c.*312T>C rs201122774 0.00041
NM_000391.4(TPP1):c.101G>A (p.Gly34Asp) rs138448968 0.00041
NM_000447.3(PSEN2):c.754G>A (p.Ala252Thr) rs138836272 0.00041
NM_003560.4(PLA2G6):c.2068G>A (p.Val690Ile) rs141777179 0.00041
NM_004960.3(FUS):c.*3231T>C rs193018950 0.00041
NM_017882.3(CLN6):c.*131G>T rs556392570 0.00041
NM_017882.3(CLN6):c.822G>A (p.Ala274=) rs151186473 0.00041
NM_025000.4(DCAF17):c.*2429A>G rs778932293 0.00041
NM_001042432.2(CLN3):c.1230G>A (p.Ala410=) rs201206239 0.00040
NM_001257180.2(SLC20A2):c.*482T>C rs558754799 0.00040
NM_003560.4(PLA2G6):c.101C>T (p.Ser34Leu) rs147948449 0.00040
NM_007126.5(VCP):c.832T>C (p.Leu278=) rs200670526 0.00040
NM_000021.4(PSEN1):c.*3848G>C rs886050682 0.00039
NM_000487.6(ARSA):c.*2316C>T rs117951552 0.00039
NM_001130823.3(DNMT1):c.981T>G (p.Ile327Met) rs61758431 0.00039
NM_004115.4(FGF14):c.*176C>G rs191705440 0.00039
NM_017882.3(CLN6):c.*882C>T rs766413849 0.00039
NM_018325.5(C9orf72):c.*901T>C rs774314112 0.00039
NM_022089.4(ATP13A2):c.3087C>T (p.Phe1029=) rs184878897 0.00039
NM_025000.4(DCAF17):c.1426T>C (p.Tyr476His) rs142735693 0.00039
NM_000021.4(PSEN1):c.*2604C>T rs773295728 0.00038
NM_000021.4(PSEN1):c.*3328C>G rs181726819 0.00038
NM_001130823.3(DNMT1):c.*253G>A rs768761819 0.00038
NM_001130823.3(DNMT1):c.2626G>A (p.Gly876Arg) rs62621087 0.00038
NM_003560.4(PLA2G6):c.416G>A (p.Arg139His) rs141825182 0.00038
NM_173500.4(TTBK2):c.-279C>A rs866690514 0.00038
NM_173500.4(TTBK2):c.3021A>G (p.Leu1007=) rs201662235 0.00038
NM_000021.4(PSEN1):c.1002C>T (p.Gly334=) rs116640707 0.00037
NM_000033.4(ABCD1):c.945G>A (p.Ser315=) rs145545199 0.00037
NM_000096.4(CP):c.938C>T (p.Thr313Ile) rs144401501 0.00037
NM_000146.4(FTL):c.*24C>T rs368083362 0.00037
NM_001376.5(DYNC1H1):c.738A>G (p.Gln246=) rs117189734 0.00037
NM_001378452.1(ITPR1):c.3657C>T (p.Gly1219=) rs201621621 0.00037
NM_001378452.1(ITPR1):c.4474G>A (p.Val1492Ile) rs200646875 0.00037
NM_198994.3(TGM6):c.622G>A (p.Val208Met) rs61743614 0.00037
NM_001909.5(CTSD):c.827+13T>C rs369602025 0.00036
NM_002222.6(ITPR1):c.*1347G>T rs547675218 0.00036
NM_006946.4(SPTBN2):c.1719C>T (p.His573=) rs148207416 0.00036
NM_017882.3(CLN6):c.-38C>T rs756496671 0.00036
NM_017882.3(CLN6):c.42C>A (p.Gly14=) rs373776911 0.00036
NM_018325.5(C9orf72):c.1149+9T>C rs139352974 0.00036
NM_198994.3(TGM6):c.115A>T (p.Ser39Cys) rs144201778 0.00036
NM_198994.3(TGM6):c.555C>T (p.Asp185=) rs144101264 0.00036
NM_000021.4(PSEN1):c.*1585A>T rs185405511 0.00035
NM_000521.4(HEXB):c.1248G>A (p.Ala416=) rs137915238 0.00035
NM_001130823.3(DNMT1):c.1224C>T (p.Asn408=) rs199584370 0.00035
NM_001130823.3(DNMT1):c.3408C>G (p.Pro1136=) rs144675407 0.00035
NM_001376.5(DYNC1H1):c.4395+2C>T rs192594531 0.00035
NM_002739.5(PRKCG):c.*550C>T rs778703745 0.00035
NM_002778.4(PSAP):c.-29C>T rs201780377 0.00035
NM_003560.4(PLA2G6):c.91G>A (p.Asp31Asn) rs150024227 0.00035
NM_007126.5(VCP):c.*700C>A rs537730311 0.00035
NM_022089.4(ATP13A2):c.1203C>T (p.Cys401=) rs148026506 0.00035
NM_033305.3(VPS13A):c.5471A>G (p.Tyr1824Cys) rs144290291 0.00035
NM_173500.4(TTBK2):c.-130G>C rs886051164 0.00035
NM_000033.4(ABCD1):c.1047C>A (p.Val349=) rs185931852 0.00034
NM_000487.6(ARSA):c.*2037C>T rs568146327 0.00034
NM_001257180.2(SLC20A2):c.846C>T (p.Asp282=) rs116122164 0.00034
NM_001376.5(DYNC1H1):c.11596-7G>A rs375593873 0.00034
NM_001378452.1(ITPR1):c.7098C>T (p.Gly2366=) rs41290672 0.00034
NM_001909.5(CTSD):c.1071+12A>G rs113936232 0.00034
NM_006946.4(SPTBN2):c.*121A>G rs554283435 0.00034
NM_007375.4(TARDBP):c.239-15G>A rs200066188 0.00034
NM_022089.4(ATP13A2):c.1926G>A (p.Ala642=) rs200916673 0.00034
NM_022089.4(ATP13A2):c.2263C>G (p.Gln755Glu) rs200924194 0.00034
NM_022089.4(ATP13A2):c.3314C>T (p.Pro1105Leu) rs201756175 0.00034
NM_025219.3(DNAJC5):c.*4129G>C rs191412647 0.00034
NM_031448.6(C19orf12):c.-11+149G>C rs367660476 0.00034
NM_173500.4(TTBK2):c.*185A>G rs376104201 0.00034
NM_198994.3(TGM6):c.1690C>T (p.Pro564Ser) rs200674917 0.00034
NM_000033.4(ABCD1):c.1810G>A (p.Val604Ile) rs151201945 0.00033
NM_000447.3(PSEN2):c.690C>G (p.Ala230=) rs145010538 0.00033
NM_000484.4(APP):c.*724C>T rs146774213 0.00033
NM_001257180.2(SLC20A2):c.1101C>G (p.Pro367=) rs199935692 0.00033
NM_001376.5(DYNC1H1):c.9762+9T>G rs376545350 0.00033
NM_004115.4(FGF14):c.123C>T (p.Asn41=) rs372705140 0.00033
NM_000033.4(ABCD1):c.*903G>A rs78155328 0.00032
NM_001376.5(DYNC1H1):c.12514-9C>A rs74874468 0.00032
NM_001376.5(DYNC1H1):c.7203A>C (p.Lys2401Asn) rs150888094 0.00032
NM_001378452.1(ITPR1):c.6349G>T (p.Ala2117Ser) rs373973399 0.00032
NM_001909.5(CTSD):c.*736C>G rs577842141 0.00032
NM_007126.5(VCP):c.2406T>C (p.Asp802=) rs145508640 0.00032
NM_007375.4(TARDBP):c.*666G>A rs778834503 0.00032
NM_025219.3(DNAJC5):c.*4131C>T rs146360147 0.00032
NM_000021.4(PSEN1):c.*2529G>T rs574941431 0.00031
NM_000033.4(ABCD1):c.*767C>T rs1276642493 0.00031
NM_000487.6(ARSA):c.*15G>A rs377187248 0.00031
NM_000521.4(HEXB):c.918G>C (p.Leu306=) rs140607282 0.00031
NM_000784.4(CYP27A1):c.1183C>T (p.Arg395Cys) rs121908096 0.00031
NM_001257180.2(SLC20A2):c.849C>T (p.Ser283=) rs114218633 0.00031
NM_001378452.1(ITPR1):c.141C>T (p.Asn47=) rs370939479 0.00031
NM_001378452.1(ITPR1):c.4854C>T (p.Ser1618=) rs373127487 0.00031
NM_007375.4(TARDBP):c.*2773A>G rs187380325 0.00031
NM_022089.4(ATP13A2):c.1128C>T (p.Cys376=) rs148970081 0.00031
NM_022124.6(CDH23):c.*141G>A rs535544696 0.00031
NM_000021.4(PSEN1):c.104G>A (p.Arg35Gln) rs63750592 0.00030
NM_001376.5(DYNC1H1):c.5971G>A (p.Asp1991Asn) rs151001016 0.00030
NM_001376.5(DYNC1H1):c.7192C>T (p.Arg2398Cys) rs141525226 0.00030
NM_022089.4(ATP13A2):c.2619G>C (p.Val873=) rs199994961 0.00030
NM_033305.3(VPS13A):c.7456A>G (p.Ile2486Val) rs142981309 0.00030
NM_000021.4(PSEN1):c.*2659A>T rs531711335 0.00029
NM_000021.4(PSEN1):c.*4078C>T rs533047073 0.00029
NM_000096.4(CP):c.*373C>G rs370247691 0.00029
NM_000096.4(CP):c.2997C>T (p.His999=) rs147475926 0.00029
NM_000391.4(TPP1):c.*241T>C rs74843914 0.00029
NM_000487.6(ARSA):c.-142G>A rs886057660 0.00029
NM_000487.6(ARSA):c.542T>G (p.Ile181Ser) rs74315457 0.00029
NM_000520.6(HEXA):c.*355C>G rs188399769 0.00029
NM_001042432.2(CLN3):c.242C>T (p.Pro81Leu) rs137906617 0.00029
NM_001378452.1(ITPR1):c.*279A>G rs886058645 0.00029
NM_001378452.1(ITPR1):c.7986C>T (p.Thr2662=) rs368405302 0.00029
NM_001909.5(CTSD):c.1071+7G>A rs374010531 0.00029
NM_003560.4(PLA2G6):c.956C>T (p.Thr319Met) rs149653983 0.00029
NM_004115.4(FGF14):c.384T>C (p.Asn128=) rs41281646 0.00029
NM_006946.4(SPTBN2):c.-56C>T rs527588843 0.00029
NM_014043.4(CHMP2B):c.192A>G (p.Gln64=) rs148750997 0.00029
NM_014043.4(CHMP2B):c.364T>C (p.Leu122=) rs189313287 0.00029
NM_022089.4(ATP13A2):c.1244G>A (p.Arg415Gln) rs190746040 0.00029
NM_022124.6(CDH23):c.*104G>C rs377312107 0.00029
NM_025000.4(DCAF17):c.913A>G (p.Ile305Val) rs114419034 0.00029
NM_033305.3(VPS13A):c.2124A>G (p.Ser708=) rs199682779 0.00029
NM_173500.4(TTBK2):c.1555G>C (p.Ala519Pro) rs200124857 0.00029
NM_198994.3(TGM6):c.277A>G (p.Met93Val) rs146529216 0.00029
NM_000021.4(PSEN1):c.*4367T>C rs574271978 0.00028
NM_000784.4(CYP27A1):c.*47G>A rs140059093 0.00028
NM_002778.4(PSAP):c.-28A>C rs375720661 0.00028
NM_003560.4(PLA2G6):c.325C>G (p.His109Asp) rs142530390 0.00028
NM_006946.4(SPTBN2):c.6242G>A (p.Arg2081Gln) rs764407421 0.00028
NM_022089.4(ATP13A2):c.*243A>C rs777596557 0.00028
NM_025219.3(DNAJC5):c.*274C>T rs762734761 0.00028
NM_033305.3(VPS13A):c.1528C>T (p.Leu510=) rs147954757 0.00028
NM_001378452.1(ITPR1):c.5766T>C (p.Asp1922=) rs201311531 0.00027
NM_173500.4(TTBK2):c.2171G>A (p.Gly724Glu) rs201524659 0.00027
NM_198994.3(TGM6):c.38G>A (p.Arg13Gln) rs201694328 0.00027
NM_000021.4(PSEN1):c.*2325A>G rs546052493 0.00026
NM_000096.4(CP):c.2565C>T (p.Leu855=) rs781672409 0.00026
NM_000487.6(ARSA):c.*2301T>C rs534387866 0.00026
NM_001257180.2(SLC20A2):c.1572C>T (p.Gly524=) rs116795654 0.00026
NM_001257180.2(SLC20A2):c.1911C>T (p.Ser637=) rs141545390 0.00026
NM_001376.5(DYNC1H1):c.-13C>G rs537857759 0.00026
NM_001909.5(CTSD):c.154G>A (p.Val52Ile) rs143517230 0.00026
NM_004960.3(FUS):c.*1034C>T rs181164144 0.00026
NM_007375.4(TARDBP):c.*2333C>T rs138320721 0.00026
NM_017882.3(CLN6):c.*284C>T rs536039114 0.00026
NM_022124.6(CDH23):c.9629T>C (p.Ile3210Thr) rs144688588 0.00026
NM_031448.6(C19orf12):c.*1854G>A rs565402320 0.00026
NM_033305.3(VPS13A):c.4390C>A (p.His1464Asn) rs148891181 0.00026
NM_198994.3(TGM6):c.1171G>A (p.Val391Met) rs116904482 0.00026
NM_000021.4(PSEN1):c.*768A>G rs200194433 0.00025
NM_000096.4(CP):c.2158C>T (p.Arg720Trp) rs145784949 0.00025
NM_000391.4(TPP1):c.622C>T (p.Arg208Ter) rs119455955 0.00025
NM_001257180.2(SLC20A2):c.*409A>G rs190717111 0.00025
NM_001378452.1(ITPR1):c.255C>T (p.Asp85=) rs367814655 0.00025
NM_001909.5(CTSD):c.1009G>A (p.Ala337Thr) rs147800688 0.00025
NM_004960.3(FUS):c.*1089G>A rs184277413 0.00025
NM_018325.5(C9orf72):c.*317A>G rs886063839 0.00025
NM_025000.4(DCAF17):c.*1747C>A rs747014569 0.00025
NM_000487.6(ARSA):c.*1207T>G rs985590155 0.00024
NM_001130823.3(DNMT1):c.393C>T (p.Pro131=) rs143904813 0.00024
NM_001130823.3(DNMT1):c.406C>T (p.Arg136Cys) rs138841970 0.00024
NM_001256054.3(C9orf72):c.-115A>C rs183102304 0.00024
NM_002739.5(PRKCG):c.1281+9G>C rs370400523 0.00024
NM_003560.4(PLA2G6):c.773C>T (p.Ser258Leu) rs147924368 0.00024
NM_004960.3(FUS):c.*1451A>G rs960906406 0.00024
NM_004960.4(FUS):c.764+12A>C rs143916861 0.00024
NM_006796.3(AFG3L2):c.2167G>A (p.Val723Met) rs139469785 0.00024
NM_007375.4(TARDBP):c.*2740G>A rs566658679 0.00024
NM_014043.4(CHMP2B):c.*1647A>G rs534772903 0.00024
NM_022089.4(ATP13A2):c.3258G>A (p.Ala1086=) rs377253172 0.00024
NM_022089.4(ATP13A2):c.3429C>T (p.Pro1143=) rs377703085 0.00024
NM_025000.4(DCAF17):c.*15T>C rs146258833 0.00024
NM_025000.4(DCAF17):c.209A>G (p.Asn70Ser) rs200380164 0.00024
NM_173500.4(TTBK2):c.595C>T (p.Arg199Trp) rs200125366 0.00024
NM_198994.3(TGM6):c.1040C>T (p.Pro347Leu) rs183670042 0.00024
NM_000021.4(PSEN1):c.*3130C>T rs550055242 0.00023
NM_000487.6(ARSA):c.*342A>G rs182635438 0.00023
NM_001130823.3(DNMT1):c.2693C>T (p.Thr898Ile) rs201213597 0.00023
NM_001130823.3(DNMT1):c.575C>T (p.Ala192Val) rs62621089 0.00023
NM_001376.5(DYNC1H1):c.13149C>T (p.Thr4383=) rs375767483 0.00023
NM_001376.5(DYNC1H1):c.13707G>A (p.Thr4569=) rs138571942 0.00023
NM_002103.5(GYS1):c.2043C>T (p.Ala681=) rs142265031 0.00023
NM_007126.5(VCP):c.-250C>T rs886063894 0.00023
NM_025000.4(DCAF17):c.*3880G>T rs754667938 0.00023
NM_025219.3(DNAJC5):c.*4387C>G rs550273913 0.00023
NM_033305.3(VPS13A):c.5594C>T (p.Thr1865Ile) rs143449578 0.00023
NM_000447.3(PSEN2):c.954C>T (p.Pro318=) rs199587016 0.00022
NM_000487.6(ARSA):c.*2368A>T rs570115432 0.00022
NM_000487.6(ARSA):c.982G>A (p.Val328Met) rs143994992 0.00022
NM_000784.4(CYP27A1):c.*195G>C rs886055632 0.00022
NM_001378452.1(ITPR1):c.*1008A>G rs141084091 0.00022
NM_001378452.1(ITPR1):c.7491C>T (p.Ser2497=) rs371986594 0.00022
NM_001378452.1(ITPR1):c.882C>T (p.Gly294=) rs370157764 0.00022
NM_001386393.1(PANK2):c.50G>T (p.Gly17Val) rs528149001 0.00022
NM_001909.5(CTSD):c.*358C>T rs542969755 0.00022
NM_002087.4(GRN):c.1253G>A (p.Arg418Gln) rs63751100 0.00022
NM_004960.4(FUS):c.1080C>T (p.Ser360=) rs190724342 0.00022
NM_007375.4(TARDBP):c.269C>T (p.Ala90Val) rs80356715 0.00022
NM_017882.3(CLN6):c.100G>A (p.Ala34Thr) rs146198681 0.00022
NM_024411.5(PDYN):c.691C>A (p.Arg231=) rs201204862 0.00022
NM_025000.4(DCAF17):c.533G>A (p.Arg178Gln) rs202231211 0.00022
NM_000096.4(CP):c.1104G>C (p.Gly368=) rs142503847 0.00021
NM_000391.4(TPP1):c.*223T>C rs538963672 0.00021
NM_000487.6(ARSA):c.*527A>G rs898694289 0.00021
NM_000520.6(HEXA):c.1073+1G>A rs76173977 0.00021
NM_001376.5(DYNC1H1):c.1704T>C (p.Leu568=) rs192959810 0.00021
NM_001376.5(DYNC1H1):c.9093G>A (p.Thr3031=) rs145208135 0.00021
NM_001378452.1(ITPR1):c.7389C>T (p.Phe2463=) rs200487406 0.00021
NM_002222.6(ITPR1):c.*1611G>A rs565800630 0.00021
NM_002739.5(PRKCG):c.711G>T (p.Glu237Asp) rs116236420 0.00021
NM_003560.4(PLA2G6):c.2417C>G (p.Pro806Arg) rs140758033 0.00021
NM_006946.4(SPTBN2):c.2064C>T (p.Gly688=) rs376219874 0.00021
NM_007375.4(TARDBP):c.*670T>C rs745611651 0.00021
NM_017882.3(CLN6):c.282C>A (p.Pro94=) rs139261571 0.00021
NM_018325.5(C9orf72):c.*122G>A rs549202876 0.00021
NM_022089.4(ATP13A2):c.36G>A (p.Thr12=) rs61741838 0.00021
NM_031448.6(C19orf12):c.-11+124G>T rs767622377 0.00021
NM_198994.3(TGM6):c.940G>A (p.Val314Met) rs202184911 0.00021
NM_000021.4(PSEN1):c.*1625A>G rs750857788 0.00020
NM_000033.4(ABCD1):c.*412T>C rs1057515815 0.00020
NM_003560.4(PLA2G6):c.439G>A (p.Ala147Thr) rs138672490 0.00020
NM_014043.4(CHMP2B):c.85A>G (p.Ile29Val) rs63750818 0.00020
NM_033305.3(VPS13A):c.1453-15C>T rs200334710 0.00020
NM_000096.4(CP):c.1217C>A (p.Ala406Glu) rs147034302 0.00019
NM_000306.4(POU1F1):c.666-6C>T rs201995103 0.00019
NM_000447.3(PSEN2):c.100G>A (p.Gly34Ser) rs200636353 0.00019
NM_000484.4(APP):c.*194A>C rs199977643 0.00019
NM_000484.4(APP):c.982C>T (p.Arg328Trp) rs200978018 0.00019
NM_000520.6(HEXA):c.1216C>T (p.Leu406=) rs140482769 0.00019
NM_000520.6(HEXA):c.1421+14G>C rs201497629 0.00019
NM_000521.4(HEXB):c.1614-14C>A rs201448394 0.00019
NM_000784.4(CYP27A1):c.789C>T (p.Pro263=) rs143600636 0.00019
NM_001130823.3(DNMT1):c.387C>T (p.Pro129=) rs369470867 0.00019
NM_001257180.2(SLC20A2):c.1580C>T (p.Thr527Met) rs145970823 0.00019
NM_001376.5(DYNC1H1):c.7463G>A (p.Arg2488His) rs149581331 0.00019
NM_001378452.1(ITPR1):c.2111G>C (p.Ser704Thr) rs373694009 0.00019
NM_001909.5(CTSD):c.240C>T (p.Tyr80=) rs147641822 0.00019
NM_002778.4(PSAP):c.1476T>C (p.Thr492=) rs139178900 0.00019
NM_003560.4(PLA2G6):c.386T>C (p.Leu129Pro) rs374746113 0.00019
NM_003560.4(PLA2G6):c.441G>A (p.Ala147=) rs371920697 0.00019
NM_006796.3(AFG3L2):c.*484A>G rs565352114 0.00019
NM_007375.4(TARDBP):c.*214T>C rs557787340 0.00019
NM_007375.4(TARDBP):c.1098C>G (p.Ala366=) rs148325203 0.00019
NM_018325.5(C9orf72):c.462C>T (p.Val154=) rs188263738 0.00019
NM_025000.4(DCAF17):c.*926G>T rs62183509 0.00019
NM_173500.4(TTBK2):c.*967G>A rs569220743 0.00019
NM_173500.4(TTBK2):c.-51C>T rs374364415 0.00019
NM_000033.4(ABCD1):c.1215G>A (p.Ser405=) rs138233092 0.00018
NM_000391.4(TPP1):c.796C>T (p.Arg266Trp) rs200138397 0.00018
NM_000447.3(PSEN2):c.149A>G (p.Gln50Arg) rs143501870 0.00018
NM_003560.4(PLA2G6):c.396C>T (p.Arg132=) rs146252218 0.00018
NM_031448.6(C19orf12):c.*3242C>T rs886054314 0.00018
NM_173500.4(TTBK2):c.*490T>C rs142589086 0.00018
NM_198994.3(TGM6):c.31T>G (p.Trp11Gly) rs141178275 0.00018
NM_000096.4(CP):c.944A>G (p.Asn315Ser) rs370682704 0.00017
NM_001042432.2(CLN3):c.392G>A (p.Ser131Asn) rs144770450 0.00017
NM_001130823.3(DNMT1):c.4146G>A (p.Thr1382=) rs184125970 0.00017
NM_001130823.3(DNMT1):c.633A>G (p.Glu211=) rs141264613 0.00017
NM_002739.5(PRKCG):c.286-12C>A rs143352499 0.00017
NM_003560.4(PLA2G6):c.1427C>T (p.Thr476Ile) rs146684391 0.00017
NM_025000.4(DCAF17):c.*1124G>A rs779974974 0.00017
NM_025219.3(DNAJC5):c.*3839G>A rs145028189 0.00017
NM_031448.6(C19orf12):c.*1897A>T rs528651591 0.00017
NM_031448.6(C19orf12):c.*2222A>C rs535994327 0.00017
NM_000146.4(FTL):c.169G>A (p.Glu57Lys) rs201241191 0.00016
NM_000521.4(HEXB):c.1612G>A (p.Glu538Lys) rs143635580 0.00016
NM_000521.4(HEXB):c.1667T>C (p.Met556Thr) rs140627230 0.00016
NM_000784.4(CYP27A1):c.1017+5G>A rs370304209 0.00016
NM_000784.4(CYP27A1):c.1184+9G>T rs200457116 0.00016
NM_000784.4(CYP27A1):c.504A>T (p.Pro168=) rs142623022 0.00016
NM_001130823.3(DNMT1):c.1896G>A (p.Thr632=) rs202058239 0.00016
NM_001257180.2(SLC20A2):c.138G>A (p.Gln46=) rs116068659 0.00016
NM_001376.5(DYNC1H1):c.4515G>A (p.Ser1505=) rs186932188 0.00016
NM_001376.5(DYNC1H1):c.8478A>G (p.Ala2826=) rs117846737 0.00016
NM_001378452.1(ITPR1):c.1951C>T (p.Leu651=) rs375234629 0.00016
NM_001378452.1(ITPR1):c.2007-7T>G rs764512335 0.00016
NM_001378452.1(ITPR1):c.57G>A (p.Ala19=) rs200534989 0.00016
NM_002778.4(PSAP):c.*376A>G rs141906397 0.00016
NM_002778.4(PSAP):c.*737G>A rs147046509 0.00016
NM_004960.3(FUS):c.*1286C>G rs547623704 0.00016
NM_004960.3(FUS):c.*2299A>C rs774311328 0.00016
NM_006796.2(AFG3L2):c.-179C>T rs576218520 0.00016
NM_006796.3(AFG3L2):c.498C>T (p.Ser166=) rs141538541 0.00016
NM_006946.4(SPTBN2):c.5031C>T (p.Ala1677=) rs201752194 0.00016
NM_007375.4(TARDBP):c.*2823T>C rs961126665 0.00016
NM_014043.4(CHMP2B):c.549A>G (p.Ser183=) rs143178463 0.00016
NM_022124.6(CDH23):c.9799C>T (p.Arg3267Cys) rs201727938 0.00016
NM_024411.5(PDYN):c.*836C>G rs80315813 0.00016
NM_025000.4(DCAF17):c.*2113C>A rs139529937 0.00016
NM_025000.4(DCAF17):c.*2943C>T rs965835850 0.00016
NM_025219.3(DNAJC5):c.*3432G>A rs1051821 0.00016
NM_033305.3(VPS13A):c.7096C>T (p.Pro2366Ser) rs200107412 0.00016
NM_173500.4(TTBK2):c.3543G>A (p.Ser1181=) rs199635198 0.00016
NM_198994.3(TGM6):c.-42C>T rs376489998 0.00016
NM_000021.4(PSEN1):c.*4095A>G rs369540718 0.00015
NM_000096.4(CP):c.1191C>G (p.Asn397Lys) rs146229133 0.00015
NM_000096.4(CP):c.151C>T (p.His51Tyr) rs150681942 0.00015
NM_000391.4(TPP1):c.*1774G>A rs886048532 0.00015
NM_001042432.2(CLN3):c.677+8G>A rs368568189 0.00015
NM_001376.5(DYNC1H1):c.11366T>C (p.Ile3789Thr) rs775444653 0.00015
NM_001376.5(DYNC1H1):c.2670G>T (p.Leu890=) rs142961295 0.00015
NM_002103.5(GYS1):c.*370A>C rs185366453 0.00015
NM_004960.3(FUS):c.*1834A>G rs758999415 0.00015
NM_006796.3(AFG3L2):c.*326G>A rs180917336 0.00015
NM_022089.4(ATP13A2):c.*58A>G rs369126613 0.00015
NM_022089.4(ATP13A2):c.1108C>T (p.Arg370Trp) rs142616130 0.00015
NM_025219.3(DNAJC5):c.*1182C>T rs753503517 0.00015
NM_153638.4(PANK2):c.280C>G (p.Arg94Gly) rs199680057 0.00015
NM_000021.4(PSEN1):c.*390T>G rs200372973 0.00014
NM_000484.4(APP):c.1689T>C (p.Asp563=) rs137865262 0.00014
NM_001042432.2(CLN3):c.*200A>G rs561135374 0.00014
NM_001130823.3(DNMT1):c.2020-10C>T rs369373339 0.00014
NM_001376.5(DYNC1H1):c.12102+6G>A rs377669980 0.00014
NM_001376.5(DYNC1H1):c.13359C>T (p.Asn4453=) rs140033479 0.00014
NM_001378452.1(ITPR1):c.1034G>A (p.Arg345Gln) rs201804963 0.00014
NM_001378452.1(ITPR1):c.2616G>A (p.Arg872=) rs375533002 0.00014
NM_001378452.1(ITPR1):c.789C>T (p.Phe263=) rs369681244 0.00014
NM_001909.5(CTSD):c.*403C>T rs140852332 0.00014
NM_001909.5(CTSD):c.*494C>T rs551867617 0.00014
NM_003560.4(PLA2G6):c.2259C>T (p.Val753=) rs749966284 0.00014
NM_004960.3(FUS):c.*1750C>T rs191806441 0.00014
NM_004960.4(FUS):c.687T>C (p.Gly229=) rs781445592 0.00014
NM_006796.2(AFG3L2):c.-206C>A rs564906201 0.00014
NM_006796.2(AFG3L2):c.-207T>A rs533486310 0.00014
NM_014043.4(CHMP2B):c.218C>T (p.Thr73Met) rs192188850 0.00014
NM_022089.4(ATP13A2):c.106-5C>T rs117838709 0.00014
NM_022089.4(ATP13A2):c.1449C>T (p.Tyr483=) rs750600448 0.00014
NM_025219.3(DNAJC5):c.*3116T>A rs886056949 0.00014
NM_033305.3(VPS13A):c.9314T>A (p.Leu3105His) rs141321409 0.00014
NM_033305.3(VPS13A):c.971A>G (p.His324Arg) rs138568018 0.00014
NM_198994.3(TGM6):c.379C>T (p.Arg127Trp) rs148854519 0.00014
NM_198994.3(TGM6):c.632G>A (p.Arg211His) rs192045738 0.00014
NM_000021.4(PSEN1):c.*1316G>T rs909535762 0.00013
NM_000033.4(ABCD1):c.2044G>C (p.Glu682Gln) rs781793261 0.00013
NM_000096.3(CP):c.-165C>T rs536533840 0.00013
NM_000096.4(CP):c.93G>A (p.Thr31=) rs201521886 0.00013
NM_000447.3(PSEN2):c.*103C>T rs571670427 0.00013
NM_000447.3(PSEN2):c.*378G>C rs200173939 0.00013
NM_000484.4(APP):c.355+9G>A rs371324252 0.00013
NM_000784.4(CYP27A1):c.1016C>T (p.Thr339Met) rs121908102 0.00013
NM_001130823.3(DNMT1):c.2667C>T (p.Tyr889=) rs199832007 0.00013
NM_001130823.3(DNMT1):c.382C>A (p.Pro128Thr) rs146601335 0.00013
NM_001376.4(DYNC1H1):c.-137C>T rs886050367 0.00013
NM_001376.5(DYNC1H1):c.12075C>T (p.Leu4025=) rs373636519 0.00013
NM_001378452.1(ITPR1):c.6180+11T>A rs772860677 0.00013
NM_001909.5(CTSD):c.1162G>A (p.Val388Ile) rs202073338 0.00013
NM_002739.5(PRKCG):c.822-14C>T rs367639661 0.00013
NM_002778.4(PSAP):c.557G>A (p.Arg186His) rs138880818 0.00013
NM_004115.4(FGF14):c.*1772C>A rs761322568 0.00013
NM_007126.5(VCP):c.*347C>T rs886063888 0.00013
NM_014043.4(CHMP2B):c.64C>T (p.Arg22Ter) rs138886714 0.00013
NM_017882.3(CLN6):c.*246G>A rs886051441 0.00013
NM_017882.3(CLN6):c.*69G>T rs761969677 0.00013
NM_018325.5(C9orf72):c.*32A>C rs759595881 0.00013
NM_024411.5(PDYN):c.*346G>A rs780894307 0.00013
NM_025219.3(DNAJC5):c.*3375C>T rs886056951 0.00013
NM_031448.6(C19orf12):c.*1536T>C rs182215624 0.00013
NM_031448.6(C19orf12):c.*3745G>A rs140771696 0.00013
NM_033305.3(VPS13A):c.*1194A>C rs556413345 0.00013
NM_033305.3(VPS13A):c.787G>A (p.Val263Met) rs372957084 0.00013
NM_173500.4(TTBK2):c.*536T>C rs902865683 0.00013
NM_173500.4(TTBK2):c.1100A>T (p.Lys367Ile) rs764753481 0.00013
NM_173500.4(TTBK2):c.2418A>G (p.Pro806=) rs185441376 0.00013
NM_000021.4(PSEN1):c.234C>T (p.Gly78=) rs143782428 0.00012
NM_000033.4(ABCD1):c.1354C>T (p.Arg452Trp) rs368061976 0.00012
NM_000484.4(APP):c.*738T>C rs201621005 0.00012
NM_000487.6(ARSA):c.*625G>A rs778826401 0.00012
NM_000487.6(ARSA):c.1258A>C (p.Ser420Arg) rs139073195 0.00012
NM_000521.4(HEXB):c.1627G>A (p.Ala543Thr) rs121907984 0.00012
NM_000784.4(CYP27A1):c.578G>A (p.Arg193Gln) rs181649030 0.00012
NM_001909.5(CTSD):c.90G>A (p.Thr30=) rs368529527 0.00012
NM_003560.4(PLA2G6):c.16C>T (p.Arg6Cys) rs143250889 0.00012
NM_004960.3(FUS):c.*1581T>C rs751331525 0.00012
NM_006946.4(SPTBN2):c.406A>G (p.Met136Val) rs150610657 0.00012
NM_014043.4(CHMP2B):c.*836T>C rs189927047 0.00012
NM_017882.3(CLN6):c.*1023G>A rs760989550 0.00012
NM_018325.5(C9orf72):c.682T>C (p.Leu228=) rs147034723 0.00012
NM_022089.4(ATP13A2):c.1711G>A (p.Asp571Asn) rs369863178 0.00012
NM_031448.6(C19orf12):c.*1488T>G rs777128142 0.00012
NM_000021.4(PSEN1):c.654A>G (p.Pro218=) rs115760359 0.00011
NM_000033.4(ABCD1):c.*473C>T rs782343473 0.00011
NM_000096.4(CP):c.*572A>G rs561191589 0.00011
NM_000096.4(CP):c.1493A>G (p.Gln498Arg) rs17847018 0.00011
NM_000096.4(CP):c.3006C>T (p.Ser1002=) rs199877380 0.00011
NM_000096.4(CP):c.782-3C>T rs375191868 0.00011
NM_000391.4(TPP1):c.1653C>G (p.Pro551=) rs372564255 0.00011
NM_000447.3(PSEN2):c.1177G>A (p.Val393Met) rs142690225 0.00011
NM_000484.4(APP):c.*454A>G rs200492624 0.00011
NM_000484.4(APP):c.225+14G>A rs199644062 0.00011
NM_000484.4(APP):c.602C>T (p.Ala201Val) rs149995579 0.00011
NM_000487.6(ARSA):c.*1171A>G rs918518184 0.00011
NM_000487.6(ARSA):c.-88G>A rs562486733 0.00011
NM_000487.6(ARSA):c.434G>A (p.Arg145Gln) rs551548107 0.00011
NM_001130823.3(DNMT1):c.4876G>A (p.Glu1626Lys) rs201774098 0.00011
NM_001130823.3(DNMT1):c.868G>A (p.Glu290Lys) rs200024502 0.00011
NM_001130823.3(DNMT1):c.977A>C (p.Gln326Pro) rs143287044 0.00011
NM_001257180.2(SLC20A2):c.186A>G (p.Leu62=) rs201586836 0.00011
NM_001376.5(DYNC1H1):c.5311G>A (p.Gly1771Arg) rs139842853 0.00011
NM_001376.5(DYNC1H1):c.9324A>G (p.Glu3108=) rs142338762 0.00011
NM_001378452.1(ITPR1):c.1886+14G>A rs370584403 0.00011
NM_001378452.1(ITPR1):c.2280G>T (p.Leu760=) rs375801584 0.00011
NM_001378452.1(ITPR1):c.2299C>T (p.Arg767Cys) rs377248442 0.00011
NM_001378452.1(ITPR1):c.3457A>G (p.Met1153Val) rs199698357 0.00011
NM_001378452.1(ITPR1):c.7737C>T (p.Leu2579=) rs148734757 0.00011
NM_003560.4(PLA2G6):c.*191C>T rs886057499 0.00011
NM_004960.3(FUS):c.*2851T>C rs745882198 0.00011
NM_006749.5(SLC20A2):c.-372T>C rs997866933 0.00011
NM_007126.5(VCP):c.*382C>T rs749381324 0.00011
NM_007126.5(VCP):c.-215A>G rs886063893 0.00011
NM_017882.3(CLN6):c.*991C>A rs537819492 0.00011
NM_017882.3(CLN6):c.41G>A (p.Gly14Asp) rs994590268 0.00011
NM_017882.3(CLN6):c.585C>T (p.Gly195=) rs144507672 0.00011
NM_018325.5(C9orf72):c.477A>G (p.Leu159=) rs374411112 0.00011
NM_022089.4(ATP13A2):c.114C>T (p.Ser38=) rs368279466 0.00011
NM_022089.4(ATP13A2):c.1536C>T (p.Phe512=) rs536306337 0.00011
NM_022089.4(ATP13A2):c.1767G>A (p.Pro589=) rs752208167 0.00011
NM_022124.6(CDH23):c.*80G>A rs75715348 0.00011
NM_025000.4(DCAF17):c.*2380A>G rs553179661 0.00011
NM_025219.3(DNAJC5):c.*3213G>A rs902946721 0.00011
NM_025219.3(DNAJC5):c.*3550C>T rs546308193 0.00011
NM_031448.6(C19orf12):c.*1595G>A rs537395968 0.00011
NM_031448.6(C19orf12):c.*1827G>C rs761080233 0.00011
NM_031448.6(C19orf12):c.*2449G>A rs746421147 0.00011
NM_031448.6(C19orf12):c.*281C>T rs140718921 0.00011
NM_033305.3(VPS13A):c.1785+7A>G rs367906505 0.00011
NM_033305.3(VPS13A):c.4979C>G (p.Thr1660Ser) rs139073067 0.00011
NM_000021.3(PSEN1):c.-226C>A rs200531676 0.00010
NM_000021.4(PSEN1):c.*1418G>A rs886050668 0.00010
NM_000021.4(PSEN1):c.*2865C>A rs886050679 0.00010
NM_000096.4(CP):c.1357A>G (p.Ile453Val) rs145762017 0.00010
NM_000391.4(TPP1):c.*346A>G rs149218047 0.00010
NM_000447.3(PSEN2):c.*377C>T rs202160009 0.00010
NM_000447.3(PSEN2):c.300C>T (p.Ile100=) rs200801915 0.00010
NM_000484.4(APP):c.*913C>G rs202081585 0.00010
NM_000487.6(ARSA):c.*794C>T rs886057652 0.00010
NM_000487.6(ARSA):c.511G>A (p.Asp171Asn) rs74315466 0.00010
NM_000784.4(CYP27A1):c.256G>A (p.Val86Met) rs200604732 0.00010
NM_000784.4(CYP27A1):c.792G>A (p.Val264=) rs144018609 0.00010
NM_001042432.2(CLN3):c.-41C>A rs370217726 0.00010
NM_001257180.2(SLC20A2):c.935-12A>C rs144236532 0.00010
NM_001376.5(DYNC1H1):c.2211T>A (p.Val737=) rs149902566 0.00010
NM_001386393.1(PANK2):c.1065C>G (p.Gly355=) rs564606657 0.00010
NM_001909.5(CTSD):c.14G>C (p.Ser5Thr) rs764386803 0.00010
NM_002739.5(PRKCG):c.*84C>A rs995740073 0.00010
NM_002739.5(PRKCG):c.234C>T (p.His78=) rs143456958 0.00010
NM_002778.4(PSAP):c.*574G>C rs549402343 0.00010
NM_002778.4(PSAP):c.1172C>T (p.Thr391Met) rs202125074 0.00010
NM_003560.4(PLA2G6):c.1725G>A (p.Thr575=) rs200599704 0.00010
NM_004115.4(FGF14):c.*993C>T rs752896423 0.00010
NM_004960.3(FUS):c.*1843G>A rs886051951 0.00010
NM_004960.4(FUS):c.1169-11A>G rs181859716 0.00010
NM_006796.3(AFG3L2):c.-139T>C rs542643055 0.00010
NM_006946.4(SPTBN2):c.968A>G (p.Gln323Arg) rs190532690 0.00010
NM_014043.4(CHMP2B):c.*718C>T rs918982067 0.00010
NM_024411.5(PDYN):c.-162A>G rs886056537 0.00010
NM_024411.5(PDYN):c.483C>G (p.Leu161=) rs773513924 0.00010
NM_025219.3(DNAJC5):c.*2933C>T rs886056946 0.00010
NM_031448.6(C19orf12):c.*2270T>G rs748603317 0.00010
NM_031448.6(C19orf12):c.*3288T>G rs778264130 0.00010
NM_033305.3(VPS13A):c.*474G>A rs531360785 0.00010
NM_033305.3(VPS13A):c.-158G>C rs1057515644 0.00010
NM_033305.3(VPS13A):c.3282C>T (p.Asn1094=) rs372019796 0.00010
NM_033305.3(VPS13A):c.4017A>G (p.Ile1339Met) rs151129933 0.00010
NM_173500.4(TTBK2):c.-68+15C>G rs886051163 0.00010
NM_198994.3(TGM6):c.835G>A (p.Gly279Arg) rs375595045 0.00010
NM_198994.3(TGM6):c.951C>T (p.Phe317=) rs201333931 0.00010
NM_000021.4(PSEN1):c.*1980C>T rs188214574 0.00009
NM_000146.4(FTL):c.250-6A>G rs370216913 0.00009
NM_000391.4(TPP1):c.*1478T>A rs775934269 0.00009
NM_000391.4(TPP1):c.*704C>T rs1033619913 0.00009
NM_000447.3(PSEN2):c.*20G>A rs201399057 0.00009
NM_000487.6(ARSA):c.*1987G>A rs886057643 0.00009
NM_000520.5(HEXA):c.-141G>A rs886051462 0.00009
NM_000520.6(HEXA):c.1397A>G (p.Asn466Ser) rs200936836 0.00009
NM_000521.3(HEXB):c.-52C>A rs886060748 0.00009
NM_001042432.2(CLN3):c.*78G>A rs751235567 0.00009
NM_001042432.2(CLN3):c.649C>A (p.Leu217Met) rs150913606 0.00009
NM_001042432.2(CLN3):c.754C>T (p.Pro252Ser) rs769104531 0.00009
NM_001042432.2(CLN3):c.759C>A (p.Leu253=) rs772274552 0.00009
NM_001130823.3(DNMT1):c.*274T>C rs886054125 0.00009
NM_001130823.3(DNMT1):c.2914G>A (p.Val972Met) rs148038464 0.00009
NM_001130823.3(DNMT1):c.483T>C (p.Thr161=) rs764496230 0.00009
NM_001130823.3(DNMT1):c.520A>C (p.Thr174Pro) rs201319352 0.00009
NM_001256054.3(C9orf72):c.-152A>G rs756998583 0.00009
NM_001376.5(DYNC1H1):c.13515+8C>T rs200901713 0.00009
NM_001376.5(DYNC1H1):c.13782G>A (p.Lys4594=) rs147580834 0.00009
NM_001376.5(DYNC1H1):c.1560T>C (p.Ile520=) rs761916499 0.00009
NM_001376.5(DYNC1H1):c.7152C>T (p.Ser2384=) rs376471830 0.00009
NM_001378452.1(ITPR1):c.*580T>G rs1266500433 0.00009
NM_001386393.1(PANK2):c.1189A>C (p.Met397Leu) rs146902739 0.00009
NM_001909.5(CTSD):c.-24C>T rs587780917 0.00009
NM_002087.4(GRN):c.-22C>T rs572309824 0.00009
NM_002087.4(GRN):c.1647C>T (p.Gly549=) rs745391227 0.00009
NM_002087.4(GRN):c.497C>T (p.Pro166Leu) rs368705304 0.00009
NM_002778.4(PSAP):c.1088C>T (p.Thr363Met) rs140066253 0.00009
NM_002778.4(PSAP):c.577-10T>C rs185892516 0.00009
NM_002778.4(PSAP):c.94T>G (p.Trp32Gly) rs200008050 0.00009
NM_003560.4(PLA2G6):c.1742+12C>T rs11570739 0.00009
NM_004960.4(FUS):c.222A>G (p.Gly74=) rs757454595 0.00009
NM_006946.4(SPTBN2):c.*61G>A rs566929715 0.00009
NM_006946.4(SPTBN2):c.1479C>T (p.Ala493=) rs150837212 0.00009
NM_006946.4(SPTBN2):c.249C>T (p.Ser83=) rs141552965 0.00009
NM_006946.4(SPTBN2):c.2834G>A (p.Arg945His) rs377663856 0.00009
NM_006946.4(SPTBN2):c.6940-11T>C rs551276248 0.00009
NM_007375.4(TARDBP):c.945G>A (p.Ala315=) rs145364830 0.00009
NM_014043.4(CHMP2B):c.*1421C>T rs1016915311 0.00009
NM_017882.3(CLN6):c.*1109G>A rs560713030 0.00009
NM_017882.3(CLN6):c.298-15C>T rs368661456 0.00009
NM_022089.4(ATP13A2):c.35C>T (p.Thr12Met) rs151117874 0.00009
NM_022089.4(ATP13A2):c.396G>A (p.Ala132=) rs140631323 0.00009
NM_022124.6(CDH23):c.9983G>A (p.Arg3328His) rs148475933 0.00009
NM_024411.4(PDYN):c.-241G>C rs574928545 0.00009
NM_024411.5(PDYN):c.*33A>C rs556095353 0.00009
NM_024411.5(PDYN):c.*78A>G rs537887207 0.00009
NM_025000.4(DCAF17):c.*126A>T rs139116642 0.00009
NM_025000.4(DCAF17):c.192A>G (p.Gly64=) rs200189652 0.00009
NM_025219.3(DNAJC5):c.*4036G>A rs758582743 0.00009
NM_033305.3(VPS13A):c.1094A>G (p.Tyr365Cys) rs146265794 0.00009
NM_033305.3(VPS13A):c.2922C>T (p.Pro974=) rs373768055 0.00009
NM_198994.3(TGM6):c.990-6T>C rs370391681 0.00009
NM_000487.6(ARSA):c.728G>A (p.Arg243His) rs142142638 0.00008
NM_001042432.2(CLN3):c.1209G>A (p.Glu403=) rs377369610 0.00008
NM_001130823.3(DNMT1):c.*29G>A rs749247799 0.00008
NM_001257180.2(SLC20A2):c.*798G>A rs767551448 0.00008
NM_001376.5(DYNC1H1):c.10992C>T (p.Leu3664=) rs368621706 0.00008
NM_001376.5(DYNC1H1):c.13157A>G (p.Asn4386Ser) rs201575292 0.00008
NM_001376.5(DYNC1H1):c.6030G>A (p.Pro2010=) rs202004938 0.00008
NM_001376.5(DYNC1H1):c.9531G>A (p.Leu3177=) rs531438720 0.00008
NM_001378452.1(ITPR1):c.997-6C>T rs139421901 0.00008
NM_001909.5(CTSD):c.*130G>A rs1002940636 0.00008
NM_002087.3(GRN):c.-100A>G rs956983853 0.00008
NM_002087.4(GRN):c.1341C>T (p.His447=) rs63750775 0.00008
NM_002087.4(GRN):c.626C>T (p.Pro209Leu) rs368995988 0.00008
NM_002739.5(PRKCG):c.940-3C>T rs377593245 0.00008
NM_002778.4(PSAP):c.1456C>T (p.His486Tyr) rs749660716 0.00008
NM_003560.4(PLA2G6):c.1983G>A (p.Thr661=) rs150572286 0.00008
NM_003560.4(PLA2G6):c.895-11G>A rs371094406 0.00008
NM_006946.4(SPTBN2):c.5692G>A (p.Ala1898Thr) rs759505522 0.00008
NM_006946.4(SPTBN2):c.5884C>T (p.Arg1962Cys) rs200370228 0.00008
NM_006946.4(SPTBN2):c.5950-9C>T rs554781314 0.00008
NM_007375.4(TARDBP):c.36C>T (p.Asn12=) rs565091566 0.00008
NM_017882.3(CLN6):c.*470C>T rs565006193 0.00008
NM_017882.3(CLN6):c.*481T>G rs746416658 0.00008
NM_018325.5(C9orf72):c.*1548G>A rs549660498 0.00008
NM_022089.4(ATP13A2):c.1079G>A (p.Gly360Glu) rs566918264 0.00008
NM_024411.5(PDYN):c.*522C>T rs886056532 0.00008
NM_025000.4(DCAF17):c.*2747C>T rs886055116 0.00008
NM_025000.4(DCAF17):c.27G>A (p.Val9=) rs570110822 0.00008
NM_025000.4(DCAF17):c.579C>A (p.Phe193Leu) rs150095386 0.00008
NM_025219.3(DNAJC5):c.*1557T>G rs542172964 0.00008
NM_025219.3(DNAJC5):c.*322G>A rs143646564 0.00008
NM_025219.3(DNAJC5):c.*728G>A rs150670642 0.00008
NM_033305.3(VPS13A):c.3193A>G (p.Ile1065Val) rs143067406 0.00008
NM_033305.3(VPS13A):c.5786A>G (p.Asn1929Ser) rs748876393 0.00008
NM_033305.3(VPS13A):c.9128A>G (p.Asn3043Ser) rs200755494 0.00008
NM_173500.4(TTBK2):c.3420A>G (p.Pro1140=) rs201347313 0.00008
NM_198994.3(TGM6):c.1170C>T (p.Phe390=) rs765423180 0.00008
NM_000021.4(PSEN1):c.*1874G>T rs141117435 0.00007
NM_000021.4(PSEN1):c.*265A>G rs199643125 0.00007
NM_000021.4(PSEN1):c.*2846G>A rs370528248 0.00007
NM_000033.4(ABCD1):c.1914C>T (p.Asp638=) rs199723613 0.00007
NM_000096.4(CP):c.2998G>A (p.Gly1000Ser) rs187293972 0.00007
NM_000391.4(TPP1):c.1033A>C (p.Met345Leu) rs141482368 0.00007
NM_000391.4(TPP1):c.947C>A (p.Ala316Asp) rs149463616 0.00007
NM_000487.6(ARSA):c.1334G>T (p.Gly445Val) rs540762357 0.00007
NM_000784.4(CYP27A1):c.1114G>A (p.Gly372Arg) rs369969903 0.00007
NM_000784.4(CYP27A1):c.702C>T (p.Pro234=) rs371636461 0.00007
NM_001130823.3(DNMT1):c.3936C>T (p.Phe1312=) rs367637414 0.00007
NM_001376.5(DYNC1H1):c.10506C>A (p.Thr3502=) rs548760128 0.00007
NM_001376.5(DYNC1H1):c.2376C>T (p.Cys792=) rs35092963 0.00007
NM_001378452.1(ITPR1):c.*243G>A rs963189027 0.00007
NM_001378452.1(ITPR1):c.5335G>A (p.Gly1779Ser) rs369108656 0.00007
NM_001909.5(CTSD):c.*398G>A rs776662882 0.00007
NM_002739.5(PRKCG):c.498G>T (p.Arg166=) rs148370843 0.00007
NM_003560.4(PLA2G6):c.1614C>T (p.Arg538=) rs373930150 0.00007
NM_004115.4(FGF14):c.*567G>C rs546536488 0.00007
NM_004960.3(FUS):c.*1375C>T rs542241137 0.00007
NM_004960.3(FUS):c.*1610C>T rs538629605 0.00007
NM_004960.3(FUS):c.*2314C>G rs768611402 0.00007
NM_006749.4(SLC20A2):c.-411C>T rs886574926 0.00007
NM_006796.2(AFG3L2):c.-151C>T rs554944971 0.00007
NM_006946.4(SPTBN2):c.3194G>A (p.Arg1065Gln) rs753324919 0.00007
NM_007375.4(TARDBP):c.*663C>T rs1401373740 0.00007
NM_017882.3(CLN6):c.*175C>T rs886051444 0.00007
NM_018325.5(C9orf72):c.*891A>G rs952713285 0.00007
NM_018325.5(C9orf72):c.1238T>C (p.Ile413Thr) rs760887239 0.00007
NM_018325.5(C9orf72):c.765G>A (p.Leu255=) rs758724401 0.00007
NM_022089.4(ATP13A2):c.3057del (p.Tyr1020fs) rs765632065 0.00007
NM_022089.4(ATP13A2):c.3193G>A (p.Val1065Met) rs377431904 0.00007
NM_022089.4(ATP13A2):c.3297C>T (p.Pro1099=) rs756650754 0.00007
NM_022089.4(ATP13A2):c.3539G>A (p.Arg1180Lys) rs771312962 0.00007
NM_025000.4(DCAF17):c.1266+6G>A rs557741620 0.00007
NM_025000.4(DCAF17):c.1422+14G>A rs368707741 0.00007
NM_025000.4(DCAF17):c.581G>A (p.Arg194Gln) rs371230892 0.00007
NM_025219.3(DNAJC5):c.-186C>T rs886056927 0.00007
NM_033305.3(VPS13A):c.1999A>C (p.Thr667Pro) rs148227344 0.00007
NM_033305.3(VPS13A):c.3706C>T (p.Leu1236=) rs189138644 0.00007
NM_033305.3(VPS13A):c.6074A>G (p.Asn2025Ser) rs371055567 0.00007
NM_198994.3(TGM6):c.834C>T (p.Ala278=) rs371740473 0.00007
NM_000021.4(PSEN1):c.*1380C>T rs181825217 0.00006
NM_000021.4(PSEN1):c.*1725A>G rs886050671 0.00006
NM_000021.4(PSEN1):c.*211G>A rs200186908 0.00006
NM_000021.4(PSEN1):c.*2161G>A rs535590491 0.00006
NM_000021.4(PSEN1):c.*229C>T rs199738569 0.00006
NM_000021.4(PSEN1):c.*2543C>T rs138620990 0.00006
NM_000021.4(PSEN1):c.337C>T (p.Leu113=) rs201500006 0.00006
NM_000096.3(CP):c.-199C>G rs772691705 0.00006
NM_000096.4(CP):c.3130G>A (p.Asp1044Asn) rs149217680 0.00006
NM_000157.4(GBA1):c.1504C>T (p.Arg502Cys) rs80356771 0.00006
NM_000391.4(TPP1):c.*1428T>C rs188544089 0.00006
NM_000391.4(TPP1):c.437C>T (p.Thr146Met) rs748686068 0.00006
NM_000447.3(PSEN2):c.1304G>A (p.Arg435Gln) rs201922151 0.00006
NM_000447.3(PSEN2):c.639A>G (p.Ala213=) rs555809980 0.00006
NM_000484.4(APP):c.-132G>T rs886056998 0.00006
NM_000484.4(APP):c.1458+9C>T rs201937048 0.00006
NM_000484.4(APP):c.704C>T (p.Ala235Val) rs139819006 0.00006
NM_000487.6(ARSA):c.225-5C>T rs192013394 0.00006
NM_000487.6(ARSA):c.918G>A (p.Thr306=) rs370250328 0.00006
NM_000521.4(HEXB):c.1269A>G (p.Val423=) rs746407358 0.00006
NM_000784.4(CYP27A1):c.536A>G (p.Asn179Ser) rs145080072 0.00006
NM_000784.4(CYP27A1):c.712G>A (p.Val238Met) rs199691576 0.00006
NM_001042432.2(CLN3):c.126-8C>T rs770136863 0.00006
NM_001042432.2(CLN3):c.222T>C (p.His74=) rs201225986 0.00006
NM_001130823.3(DNMT1):c.*211G>C rs772999851 0.00006
NM_001130823.3(DNMT1):c.1066G>A (p.Ala356Thr) rs529074384 0.00006
NM_001130823.3(DNMT1):c.1861A>C (p.Arg621=) rs144567470 0.00006
NM_001130823.3(DNMT1):c.3413C>G (p.Ser1138Cys) rs201308454 0.00006
NM_001130823.3(DNMT1):c.3669C>T (p.Arg1223=) rs147755768 0.00006
NM_001130823.3(DNMT1):c.3696C>T (p.Asp1232=) rs145657360 0.00006
NM_001257180.2(SLC20A2):c.*1069G>C rs1010204441 0.00006
NM_001376.5(DYNC1H1):c.12685-3C>T rs149824412 0.00006
NM_001376.5(DYNC1H1):c.13675G>A (p.Gly4559Arg) rs761881469 0.00006
NM_001376.5(DYNC1H1):c.9155A>G (p.Lys3052Arg) rs774806132 0.00006
NM_001378452.1(ITPR1):c.2808C>T (p.Gly936=) rs373515668 0.00006
NM_001386393.1(PANK2):c.624G>A (p.Ala208=) rs78631398 0.00006
NM_002087.4(GRN):c.1641C>T (p.Arg547=) rs149658268 0.00006
NM_002087.4(GRN):c.268G>A (p.Val90Met) rs200019356 0.00006
NM_002103.5(GYS1):c.*659C>T rs367578611 0.00006
NM_002739.5(PRKCG):c.*426C>T rs1002891475 0.00006
NM_002739.5(PRKCG):c.1730C>T (p.Ser577Leu) rs551805527 0.00006
NM_002778.4(PSAP):c.*1008C>T rs537171961 0.00006
NM_002778.4(PSAP):c.*276G>A rs547409137 0.00006
NM_002778.4(PSAP):c.227T>A (p.Met76Lys) rs377024801 0.00006
NM_002778.4(PSAP):c.249+6C>T rs774663731 0.00006
NM_003560.4(PLA2G6):c.-129C>T rs886057504 0.00006
NM_003560.4(PLA2G6):c.2370T>G (p.Tyr790Ter) rs121908680 0.00006
NM_004960.3(FUS):c.*1014G>A rs933525513 0.00006
NM_004960.3(FUS):c.*2259G>C rs886051954 0.00006
NM_006796.3(AFG3L2):c.1065G>A (p.Thr355=) rs139181972 0.00006
NM_006946.4(SPTBN2):c.6528T>C (p.Asn2176=) rs371535973 0.00006
NM_007126.5(VCP):c.*172C>G rs886063890 0.00006
NM_007126.5(VCP):c.*217G>T rs981870646 0.00006
NM_007126.5(VCP):c.*64C>T rs553370942 0.00006
NM_007375.4(TARDBP):c.669C>G (p.Pro223=) rs149517613 0.00006
NM_014043.4(CHMP2B):c.*1516C>T rs1024508536 0.00006
NM_014043.4(CHMP2B):c.56G>A (p.Arg19Gln) rs200322526 0.00006
NM_017882.3(CLN6):c.*179G>C rs886051443 0.00006
NM_017882.3(CLN6):c.316C>T (p.Arg106Cys) rs202226970 0.00006
NM_017882.3(CLN6):c.597C>G (p.Ala199=) rs368546281 0.00006
NM_022089.4(ATP13A2):c.2406C>T (p.Gly802=) rs886045580 0.00006
NM_022089.4(ATP13A2):c.2529+9G>A rs200809857 0.00006
NM_022089.4(ATP13A2):c.3257C>T (p.Ala1086Val) rs370677966 0.00006
NM_022124.6(CDH23):c.9291G>T (p.Lys3097Asn) rs368441850 0.00006
NM_024411.4(PDYN):c.-358G>A rs745377265 0.00006
NM_024411.5(PDYN):c.*1457C>G rs529380614 0.00006
NM_024411.5(PDYN):c.*225T>C rs569014510 0.00006
NM_024411.5(PDYN):c.*636G>C rs993395808 0.00006
NM_024411.5(PDYN):c.520C>T (p.Arg174Cys) rs567558964 0.00006
NM_024411.5(PDYN):c.616C>T (p.Arg206Cys) rs575606358 0.00006
NM_025000.4(DCAF17):c.*1531T>C rs537066061 0.00006
NM_025219.3(DNAJC5):c.*1079T>C rs370539010 0.00006
NM_025219.3(DNAJC5):c.*1927G>A rs187307345 0.00006
NM_025219.3(DNAJC5):c.*2563A>C rs188604040 0.00006
NM_025219.3(DNAJC5):c.*276C>T rs764108980 0.00006
NM_025219.3(DNAJC5):c.-95G>C rs886056932 0.00006
NM_031448.6(C19orf12):c.216G>A (p.Pro72=) rs202054484 0.00006
NM_033305.3(VPS13A):c.3424A>G (p.Met1142Val) rs750174637 0.00006
NM_033305.3(VPS13A):c.7715A>G (p.Lys2572Arg) rs202148808 0.00006
NM_033305.3(VPS13A):c.8212-15G>A rs771085531 0.00006
NM_033305.3(VPS13A):c.8766C>T (p.Ser2922=) rs201517936 0.00006
NM_173500.4(TTBK2):c.*33A>C rs149561490 0.00006
NM_173500.4(TTBK2):c.*847T>C rs567667407 0.00006
NM_198994.3(TGM6):c.816C>T (p.Gly272=) rs368599004 0.00006
NM_000021.4(PSEN1):c.*119T>C rs201908084 0.00005
NM_000021.4(PSEN1):c.*3789G>A rs867100875 0.00005
NM_000021.4(PSEN1):c.*4338A>G rs1032264220 0.00005
NM_000096.4(CP):c.*912C>G rs149920453 0.00005
NM_000096.4(CP):c.1131C>T (p.Ala377=) rs150733154 0.00005
NM_000146.4(FTL):c.*8C>T rs373178636 0.00005
NM_000447.3(PSEN2):c.*132T>C rs186288674 0.00005
NM_000484.4(APP):c.47G>A (p.Arg16Gln) rs955517095 0.00005
NM_000484.4(APP):c.885C>T (p.Ala295=) rs199890425 0.00005
NM_000521.4(HEXB):c.1035A>C (p.Pro345=) rs202227927 0.00005
NM_001042432.2(CLN3):c.418G>A (p.Val140Ile) rs373034150 0.00005
NM_001130823.3(DNMT1):c.1932C>T (p.Phe644=) rs370444117 0.00005
NM_001130823.3(DNMT1):c.2019+15G>C rs370849760 0.00005
NM_001130823.3(DNMT1):c.3351C>T (p.Asn1117=) rs534263445 0.00005
NM_001130823.3(DNMT1):c.4894G>C (p.Asp1632His) rs147118268 0.00005
NM_001376.5(DYNC1H1):c.11913C>G (p.Pro3971=) rs201174299 0.00005
NM_001376.5(DYNC1H1):c.12453A>T (p.Pro4151=) rs200375220 0.00005
NM_001376.5(DYNC1H1):c.2328G>A (p.Pro776=) rs144921184 0.00005
NM_001378452.1(ITPR1):c.256G>A (p.Ala86Thr) rs767787371 0.00005
NM_001378452.1(ITPR1):c.6579C>A (p.Ala2193=) rs35343277 0.00005
NM_001378452.1(ITPR1):c.693C>T (p.Asp231=) rs545754582 0.00005
NM_001386393.1(PANK2):c.*376A>G rs746515620 0.00005
NM_002087.4(GRN):c.933+15C>T rs1306228988 0.00005
NM_002739.5(PRKCG):c.*184C>T rs764816557 0.00005
NM_002739.5(PRKCG):c.441C>T (p.Pro147=) rs764546467 0.00005
NM_002778.4(PSAP):c.*596A>G rs965039324 0.00005
NM_002778.4(PSAP):c.-22G>C rs569841336 0.00005
NM_002778.4(PSAP):c.1000A>T (p.Thr334Ser) rs749663645 0.00005
NM_002778.4(PSAP):c.380G>A (p.Arg127His) rs886047151 0.00005
NM_004115.4(FGF14):c.261C>T (p.Pro87=) rs757210660 0.00005
NM_004960.3(FUS):c.-118G>A rs763010069 0.00005
NM_006749.4(SLC20A2):c.-415G>A rs879904962 0.00005
NM_006946.4(SPTBN2):c.2162G>A (p.Arg721His) rs200016211 0.00005
NM_006946.4(SPTBN2):c.3823C>T (p.Arg1275Trp) rs148878156 0.00005
NM_006946.4(SPTBN2):c.4120G>A (p.Ala1374Thr) rs199675740 0.00005
NM_006946.4(SPTBN2):c.6266G>A (p.Arg2089Lys) rs569905004 0.00005
NM_007126.4(VCP):c.-370G>A rs886063895 0.00005
NM_007126.5(VCP):c.*63G>A rs969638105 0.00005
NM_018325.5(C9orf72):c.*454A>G rs754824201 0.00005
NM_022089.4(ATP13A2):c.3378C>T (p.Leu1126=) rs773914880 0.00005
NM_022089.4(ATP13A2):c.601C>T (p.Arg201Cys) rs760715676 0.00005
NM_024411.5(PDYN):c.538C>T (p.Arg180Cys) rs370283678 0.00005
NM_025000.3(DCAF17):c.*3946G>A rs776729717 0.00005
NM_025000.4(DCAF17):c.-232C>T rs1007006126 0.00005
NM_025219.3(DNAJC5):c.*1643T>C rs142546412 0.00005
NM_025219.3(DNAJC5):c.*1934T>G rs768056284 0.00005
NM_031448.6(C19orf12):c.68C>T (p.Ala23Val) rs544395324 0.00005
NM_033305.3(VPS13A):c.1621C>T (p.His541Tyr) rs370950513 0.00005
NM_033305.3(VPS13A):c.2964+5G>A rs139516538 0.00005
NM_033305.3(VPS13A):c.755-7T>C rs377234046 0.00005
NM_033305.3(VPS13A):c.963G>A (p.Val321=) rs184828562 0.00005
NM_173500.4(TTBK2):c.3484C>T (p.Arg1162Cys) rs200437800 0.00005
NM_198994.3(TGM6):c.181+10C>T rs780460166 0.00005
NM_198994.3(TGM6):c.883G>A (p.Val295Met) rs200341133 0.00005
NM_000021.3(PSEN1):c.-214T>G rs886050662 0.00004
NM_000021.4(PSEN1):c.*1415C>A rs574671310 0.00004
NM_000021.4(PSEN1):c.*1889A>G rs1220105113 0.00004
NM_000021.4(PSEN1):c.*2017A>T rs538178628 0.00004
NM_000021.4(PSEN1):c.*2401C>T rs886050676 0.00004
NM_000021.4(PSEN1):c.*3199C>T rs371718090 0.00004
NM_000033.4(ABCD1):c.493C>T (p.Arg165Cys) rs781850760 0.00004
NM_000096.4(CP):c.2662-14T>C rs189155564 0.00004
NM_000157.4(GBA1):c.887G>A (p.Arg296Gln) rs78973108 0.00004
NM_000391.4(TPP1):c.*785T>G rs764323122 0.00004
NM_000391.4(TPP1):c.138G>T (p.Glu46Asp) rs778900807 0.00004
NM_000391.4(TPP1):c.379C>T (p.Arg127Ter) rs756564767 0.00004
NM_000447.3(PSEN2):c.*284T>A rs199645229 0.00004
NM_000484.4(APP):c.*355A>G rs939934369 0.00004
NM_000484.4(APP):c.1751C>G (p.Pro584Arg) rs145371658 0.00004
NM_000484.4(APP):c.2138C>T (p.Ala713Val) rs1800557 0.00004
NM_000484.4(APP):c.727G>A (p.Asp243Asn) rs750279232 0.00004
NM_000487.6(ARSA):c.*380G>A rs1249327412 0.00004
NM_000487.6(ARSA):c.-223G>T rs752129372 0.00004
NM_000520.6(HEXA):c.986+3A>G rs200926928 0.00004
NM_000521.4(HEXB):c.1082+5G>A rs5030731 0.00004
NM_000784.4(CYP27A1):c.545T>C (p.Ile182Thr) rs556745324 0.00004
NM_001042432.2(CLN3):c.*29A>G rs778438984 0.00004
NM_001042432.2(CLN3):c.1119C>T (p.Leu373=) rs376478363 0.00004
NM_001042432.2(CLN3):c.239C>T (p.Thr80Met) rs775999656 0.00004
NM_001042432.2(CLN3):c.516C>T (p.Leu172=) rs148846795 0.00004
NM_001130823.2(DNMT1):c.-72C>T rs779334757 0.00004
NM_001130823.3(DNMT1):c.1436A>C (p.Glu479Ala) rs374027926 0.00004
NM_001130823.3(DNMT1):c.3116+11G>T rs773580930 0.00004
NM_001130823.3(DNMT1):c.4173G>A (p.Pro1391=) rs550868730 0.00004
NM_001256054.3(C9orf72):c.-173A>G rs886063848 0.00004
NM_001257180.2(SLC20A2):c.1849C>T (p.Arg617Cys) rs537867998 0.00004
NM_001376.5(DYNC1H1):c.10896C>A (p.Pro3632=) rs200903643 0.00004
NM_001376.5(DYNC1H1):c.10941G>A (p.Pro3647=) rs374214760 0.00004
NM_001376.5(DYNC1H1):c.11873G>T (p.Gly3958Val) rs150118849 0.00004
NM_001376.5(DYNC1H1):c.13152G>A (p.Ala4384=) rs536121075 0.00004
NM_001376.5(DYNC1H1):c.7193G>A (p.Arg2398His) rs912429154 0.00004
NM_001376.5(DYNC1H1):c.7431C>T (p.Pro2477=) rs375687099 0.00004
NM_001376.5(DYNC1H1):c.7821C>T (p.Ser2607=) rs375547282 0.00004
NM_001378452.1(ITPR1):c.3195C>T (p.His1065=) rs745351516 0.00004
NM_001378452.1(ITPR1):c.5691T>C (p.Asp1897=) rs371661663 0.00004
NM_001378452.1(ITPR1):c.6808+8C>G rs2270749 0.00004
NM_001378452.1(ITPR1):c.709-6T>C rs374932152 0.00004
NM_001386393.1(PANK2):c.*534A>G rs780398812 0.00004
NM_001386393.1(PANK2):c.18G>A (p.Gly6=) rs750766653 0.00004
NM_001386393.1(PANK2):c.988C>T (p.Arg330Cys) rs201329683 0.00004
NM_001909.5(CTSD):c.*117C>T rs527778631 0.00004
NM_001909.5(CTSD):c.*390G>A rs1262477522 0.00004
NM_001909.5(CTSD):c.1084G>A (p.Gly362Arg) rs746733183 0.00004
NM_001909.5(CTSD):c.283G>A (p.Val95Ile) rs141482597 0.00004
NM_001909.5(CTSD):c.470C>T (p.Ser157Leu) rs587779409 0.00004
NM_002087.4(GRN):c.709-12G>C rs771557106 0.00004
NM_002103.5(GYS1):c.2207G>A (p.Arg736His) rs367919986 0.00004
NM_002778.3(PSAP):c.-50G>T rs886047154 0.00004
NM_002778.4(PSAP):c.*346C>T rs951110904 0.00004
NM_002778.4(PSAP):c.167C>G (p.Pro56Arg) rs571773332 0.00004
NM_003560.4(PLA2G6):c.*160T>C rs886057500 0.00004
NM_003560.4(PLA2G6):c.*473C>T rs886057498 0.00004
NM_003560.4(PLA2G6):c.*493C>G rs188998877 0.00004
NM_003560.4(PLA2G6):c.*515C>T rs1280474402 0.00004
NM_003560.4(PLA2G6):c.1267G>A (p.Ala423Thr) rs746217497 0.00004
NM_003560.4(PLA2G6):c.898G>A (p.Ala300Thr) rs528966598 0.00004
NM_003560.4(PLA2G6):c.995G>C (p.Cys332Ser) rs780423461 0.00004
NM_004115.4(FGF14):c.*1741T>C rs529644559 0.00004
NM_004115.4(FGF14):c.477C>T (p.Ser159=) rs776794756 0.00004
NM_004960.3(FUS):c.*1081T>G rs769920119 0.00004
NM_004960.3(FUS):c.*1883T>C rs549012470 0.00004
NM_004960.3(FUS):c.*2884A>T rs554281103 0.00004
NM_006749.4(SLC20A2):c.-436C>T rs969584653 0.00004
NM_006796.3(AFG3L2):c.*373G>A rs886053612 0.00004
NM_006796.3(AFG3L2):c.1706A>C (p.Lys569Thr) rs758811358 0.00004
NM_006946.4(SPTBN2):c.*228dup rs886048544 0.00004
NM_006946.4(SPTBN2):c.1281C>T (p.Ala427=) rs374787500 0.00004
NM_006946.4(SPTBN2):c.1720G>A (p.Glu574Lys) rs372241839 0.00004
NM_006946.4(SPTBN2):c.3795C>T (p.Asp1265=) rs141779130 0.00004
NM_006946.4(SPTBN2):c.5804G>A (p.Arg1935His) rs145750214 0.00004
NM_006946.4(SPTBN2):c.6035-12C>T rs2276137 0.00004
NM_006946.4(SPTBN2):c.924G>C (p.Glu308Asp) rs564046722 0.00004
NM_007126.5(VCP):c.*15C>T rs762559031 0.00004
NM_007126.5(VCP):c.*438A>G rs137953487 0.00004
NM_007126.5(VCP):c.1360-6T>C rs370296303 0.00004
NM_007375.4(TARDBP):c.57A>G (p.Pro19=) rs532319219 0.00004
NM_007375.4(TARDBP):c.720G>A (p.Ala240=) rs765175133 0.00004
NM_017882.3(CLN6):c.-101A>G rs555985698 0.00004
NM_017882.3(CLN6):c.259A>G (p.Met87Val) rs532180601 0.00004
NM_018325.5(C9orf72):c.703G>A (p.Val235Ile) rs781214485 0.00004
NM_022089.4(ATP13A2):c.*155C>T rs762111359 0.00004
NM_022089.4(ATP13A2):c.-151C>T rs886045583 0.00004
NM_022089.4(ATP13A2):c.2407G>A (p.Val803Ile) rs747785443 0.00004
NM_022089.4(ATP13A2):c.2558G>A (p.Arg853His) rs745954026 0.00004
NM_022089.4(ATP13A2):c.2952G>A (p.Ala984=) rs138212767 0.00004
NM_022089.4(ATP13A2):c.3112G>A (p.Ala1038Thr) rs757076945 0.00004
NM_024411.5(PDYN):c.*261C>T rs886056534 0.00004
NM_024411.5(PDYN):c.*320C>T rs1022899056 0.00004
NM_025000.4(DCAF17):c.*2292G>A rs373833929 0.00004
NM_025219.3(DNAJC5):c.*1304G>A rs865818369 0.00004
NM_025219.3(DNAJC5):c.*2171G>A rs185288496 0.00004
NM_025219.3(DNAJC5):c.*2993C>T rs886056947 0.00004
NM_025219.3(DNAJC5):c.108-3C>T rs541118679 0.00004
NM_031448.6(C19orf12):c.*2671A>C rs981370297 0.00004
NM_031448.6(C19orf12):c.*3352C>T rs754929270 0.00004
NM_031448.6(C19orf12):c.177G>A (p.Gly59=) rs768063881 0.00004
NM_033305.3(VPS13A):c.*665C>G rs41289985 0.00004
NM_033305.3(VPS13A):c.2240A>G (p.Asn747Ser) rs189129300 0.00004
NM_033305.3(VPS13A):c.3466A>G (p.Ile1156Val) rs369818421 0.00004
NM_033305.3(VPS13A):c.6613G>T (p.Gly2205Cys) rs141164942 0.00004
NM_033305.3(VPS13A):c.6739T>A (p.Ser2247Thr) rs200616248 0.00004
NM_033305.3(VPS13A):c.6840T>C (p.His2280=) rs750072063 0.00004
NM_033305.3(VPS13A):c.7850C>T (p.Pro2617Leu) rs200293888 0.00004
NM_033305.3(VPS13A):c.981C>T (p.Ala327=) rs368425803 0.00004
NM_173500.4(TTBK2):c.2831G>A (p.Arg944Gln) rs201348630 0.00004
NM_198994.3(TGM6):c.1093+10A>G rs375737445 0.00004
NM_198994.3(TGM6):c.543+7A>G rs755777005 0.00004
NM_198994.3(TGM6):c.595G>A (p.Gly199Ser) rs182249285 0.00004
NM_198994.3(TGM6):c.727G>A (p.Gly243Ser) rs202245813 0.00004
NM_198994.3(TGM6):c.992A>G (p.Asn331Ser) rs138323389 0.00004
NM_000021.4(PSEN1):c.*1792T>C rs886050672 0.00003
NM_000021.4(PSEN1):c.*1958T>C rs779158922 0.00003
NM_000021.4(PSEN1):c.*2160C>T rs886050674 0.00003
NM_000021.4(PSEN1):c.*2330G>T rs886050675 0.00003
NM_000021.4(PSEN1):c.*2836C>T rs886050678 0.00003
NM_000021.4(PSEN1):c.1078G>A (p.Ala360Thr) rs199715992 0.00003
NM_000021.4(PSEN1):c.21G>A (p.Pro7=) rs116466962 0.00003
NM_000033.4(ABCD1):c.768C>T (p.Asn256=) rs782236148 0.00003
NM_000096.4(CP):c.1575A>G (p.Val525=) rs760634973 0.00003
NM_000146.4(FTL):c.73C>T (p.Leu25=) rs201971200 0.00003
NM_000391.4(TPP1):c.*44T>A rs370517226 0.00003
NM_000447.3(PSEN2):c.1308G>A (p.Pro436=) rs199547508 0.00003
NM_000447.3(PSEN2):c.415G>A (p.Val139Met) rs202178897 0.00003
NM_000484.4(APP):c.*663C>T rs572356515 0.00003
NM_000484.4(APP):c.1458+10G>A rs201290605 0.00003
NM_000487.6(ARSA):c.*293C>T rs886057654 0.00003
NM_000487.6(ARSA):c.*479C>G rs565093599 0.00003
NM_000487.6(ARSA):c.-355G>T rs886057661 0.00003
NM_000487.6(ARSA):c.1444G>A (p.Gly482Ser) rs377717242 0.00003
NM_000487.6(ARSA):c.225-4G>A rs372937480 0.00003
NM_000487.6(ARSA):c.369C>T (p.Ala123=) rs886057657 0.00003
NM_000520.5(HEXA):c.-181T>C rs886051463 0.00003
NM_000521.3(HEXB):c.-62G>A rs1045177384 0.00003
NM_000521.4(HEXB):c.-14G>A rs886060749 0.00003
NM_000784.4(CYP27A1):c.241C>A (p.Leu81Met) rs370498798 0.00003
NM_000784.4(CYP27A1):c.808C>G (p.Arg270Gly) rs72551318 0.00003
NM_000784.4(CYP27A1):c.859G>A (p.Asp287Asn) rs775027289 0.00003
NM_000784.4(CYP27A1):c.871G>A (p.Glu291Lys) rs190012697 0.00003
NM_001042432.2(CLN3):c.1086C>G (p.Asp362Glu) rs376907245 0.00003
NM_001042432.2(CLN3):c.47-3C>T rs377583228 0.00003
NM_001130823.3(DNMT1):c.-26C>T rs745759875 0.00003
NM_001130823.3(DNMT1):c.3117-4G>A rs781402268 0.00003
NM_001130823.3(DNMT1):c.886G>A (p.Glu296Lys) rs891770194 0.00003
NM_001257180.2(SLC20A2):c.*124G>T rs948433091 0.00003
NM_001257180.2(SLC20A2):c.*289A>C rs892436898 0.00003
NM_001257180.2(SLC20A2):c.1803G>A (p.Ser601=) rs761069656 0.00003
NM_001257180.2(SLC20A2):c.678C>T (p.Phe226=) rs116687117 0.00003
NM_001376.5(DYNC1H1):c.1086A>G (p.Thr362=) rs17540728 0.00003
NM_001376.5(DYNC1H1):c.11460+12G>A rs17512790 0.00003
NM_001376.5(DYNC1H1):c.11460+4G>A rs201518717 0.00003
NM_001376.5(DYNC1H1):c.1296A>G (p.Val432=) rs767564445 0.00003
NM_001376.5(DYNC1H1):c.161C>T (p.Ala54Val) rs772070566 0.00003
NM_001376.5(DYNC1H1):c.1861G>A (p.Asp621Asn) rs755333803 0.00003
NM_001376.5(DYNC1H1):c.2672A>G (p.His891Arg) rs774004189 0.00003
NM_001376.5(DYNC1H1):c.7308G>A (p.Ala2436=) rs754446530 0.00003
NM_001378452.1(ITPR1):c.4926C>T (p.Pro1642=) rs886058616 0.00003
NM_001378452.1(ITPR1):c.5875G>A (p.Asp1959Asn) rs773864227 0.00003
NM_001378452.1(ITPR1):c.625-14A>T rs368114873 0.00003
NM_001909.5(CTSD):c.*654C>T rs148490566 0.00003
NM_001909.5(CTSD):c.-37G>A rs756112449 0.00003
NM_002087.4(GRN):c.57G>T (p.Arg19=) rs1426790644 0.00003
NM_002103.5(GYS1):c.*611C>T rs370792196 0.00003
NM_002739.5(PRKCG):c.*481T>C rs886054616 0.00003
NM_002739.5(PRKCG):c.1665C>T (p.Phe555=) rs556667568 0.00003
NM_002739.5(PRKCG):c.1904C>T (p.Pro635Leu) rs1360248213 0.00003
NM_002778.4(PSAP):c.*787C>T rs932052243 0.00003
NM_002778.4(PSAP):c.*9A>G rs376628499 0.00003
NM_002778.4(PSAP):c.336C>T (p.Ser112=) rs370977178 0.00003
NM_002778.4(PSAP):c.565C>T (p.Pro189Ser) rs188854022 0.00003
NM_002778.4(PSAP):c.798G>A (p.Ala266=) rs199672678 0.00003
NM_002778.4(PSAP):c.923C>T (p.Pro308Leu) rs886047150 0.00003
NM_003560.4(PLA2G6):c.*620G>A rs948625014 0.00003
NM_003560.4(PLA2G6):c.-31C>T rs376270953 0.00003
NM_003560.4(PLA2G6):c.448G>A (p.Glu150Lys) rs777548266 0.00003
NM_003560.4(PLA2G6):c.895-5C>T rs372128546 0.00003
NM_004115.4(FGF14):c.*777C>A rs886049936 0.00003
NM_004960.3(FUS):c.*1580A>G rs886051946 0.00003
NM_004960.3(FUS):c.*1601C>T rs886051947 0.00003
NM_004960.3(FUS):c.*1614T>G rs750030096 0.00003
NM_004960.3(FUS):c.*1650C>T rs886051948 0.00003
NM_004960.3(FUS):c.*1942G>A rs886051953 0.00003
NM_004960.3(FUS):c.*196C>T rs886051938 0.00003
NM_004960.3(FUS):c.*852A>G rs766638312 0.00003
NM_004960.4(FUS):c.1348C>T (p.Pro450Ser) rs201533156 0.00003
NM_004960.4(FUS):c.452C>T (p.Pro151Leu) rs144342946 0.00003
NM_006796.3(AFG3L2):c.1426+9A>T rs377339236 0.00003
NM_006796.3(AFG3L2):c.718C>T (p.Arg240Trp) rs768999765 0.00003
NM_006946.4(SPTBN2):c.1839G>A (p.Ser613=) rs774265056 0.00003
NM_007126.5(VCP):c.384T>C (p.Gly128=) rs367703031 0.00003
NM_007375.3(TARDBP):c.-117G>A rs886045031 0.00003
NM_007375.3(TARDBP):c.-126G>T rs886045030 0.00003
NM_007375.4(TARDBP):c.*129T>C rs886045036 0.00003
NM_007375.4(TARDBP):c.*2123T>C rs1464055996 0.00003
NM_007375.4(TARDBP):c.*2749T>C rs1028236461 0.00003
NM_007375.4(TARDBP):c.*306C>T rs1034083151 0.00003
NM_007375.4(TARDBP):c.*73G>C rs185638796 0.00003
NM_007375.4(TARDBP):c.*963C>T rs751628760 0.00003
NM_014043.4(CHMP2B):c.*1071A>G rs544589377 0.00003
NM_017882.3(CLN6):c.-92C>T rs942971560 0.00003
NM_017882.3(CLN6):c.831C>T (p.Val277=) rs753344266 0.00003
NM_018325.5(C9orf72):c.-8A>G rs548524458 0.00003
NM_018325.5(C9orf72):c.1285T>C (p.Ser429Pro) rs200703028 0.00003
NM_018325.5(C9orf72):c.573A>G (p.Lys191=) rs775042273 0.00003
NM_022089.4(ATP13A2):c.2190G>T (p.Pro730=) rs148275181 0.00003
NM_022089.4(ATP13A2):c.2439C>T (p.Thr813=) rs368244226 0.00003
NM_022089.4(ATP13A2):c.42C>T (p.Thr14=) rs371850140 0.00003
NM_024411.4(PDYN):c.-286G>C rs886056538 0.00003
NM_024411.5(PDYN):c.*1157T>G rs745852761 0.00003
NM_024411.5(PDYN):c.*561C>T rs886056531 0.00003
NM_024411.5(PDYN):c.*847T>C rs371550256 0.00003
NM_024411.5(PDYN):c.-19-1G>C rs769835663 0.00003
NM_025000.4(DCAF17):c.*3705A>G rs577520268 0.00003
NM_025000.4(DCAF17):c.214C>T (p.Arg72Trp) rs886055106 0.00003
NM_025219.3(DNAJC5):c.*1391G>A rs886056944 0.00003
NM_025219.3(DNAJC5):c.-185G>T rs886056928 0.00003
NM_031448.6(C19orf12):c.*2384C>T rs887855599 0.00003
NM_031448.6(C19orf12):c.*2621C>T rs183432713 0.00003
NM_031448.6(C19orf12):c.*3337G>A rs868247639 0.00003
NM_031448.6(C19orf12):c.*3357G>A rs753828295 0.00003
NM_031448.6(C19orf12):c.*718G>T rs770252476 0.00003
NM_031448.6(C19orf12):c.-11+120T>C rs886054326 0.00003
NM_031448.6(C19orf12):c.-11+178C>T rs948285503 0.00003
NM_031448.6(C19orf12):c.-2C>T rs397514477 0.00003
NM_033305.3(VPS13A):c.*182G>A rs983693743 0.00003
NM_033305.3(VPS13A):c.-150C>T rs560445300 0.00003
NM_033305.3(VPS13A):c.2440A>G (p.Thr814Ala) rs564878665 0.00003
NM_033305.3(VPS13A):c.2667+4G>A rs748465954 0.00003
NM_033305.3(VPS13A):c.3146T>C (p.Ile1049Thr) rs1437731472 0.00003
NM_033305.3(VPS13A):c.4909A>C (p.Thr1637Pro) rs757415947 0.00003
NM_033305.3(VPS13A):c.515C>T (p.Pro172Leu) rs772689261 0.00003
NM_033305.3(VPS13A):c.5725T>C (p.Leu1909=) rs139817600 0.00003
NM_033305.3(VPS13A):c.623G>A (p.Arg208Gln) rs201208791 0.00003
NM_033305.3(VPS13A):c.6667C>T (p.Arg2223Cys) rs772152953 0.00003
NM_033305.3(VPS13A):c.8140A>C (p.Arg2714=) rs368161466 0.00003
NM_033305.3(VPS13A):c.9077+8C>G rs1325690140 0.00003
NM_173500.4(TTBK2):c.*598G>A rs774535951 0.00003
NM_173500.4(TTBK2):c.2278C>T (p.Pro760Ser) rs117382379 0.00003
NM_173500.4(TTBK2):c.2291G>A (p.Arg764Lys) rs767399781 0.00003
NM_173500.4(TTBK2):c.2295G>T (p.Leu765=) rs751381521 0.00003
NM_173500.4(TTBK2):c.3418C>T (p.Pro1140Ser) rs576737530 0.00003
NM_173500.4(TTBK2):c.3539G>A (p.Ser1180Asn) rs200469913 0.00003
NM_198994.3(TGM6):c.1089T>C (p.Ser363=) rs762242728 0.00003
NM_198994.3(TGM6):c.621C>A (p.Asp207Glu) rs148696208 0.00003
NM_000021.4(PSEN1):c.*1360G>C rs886050667 0.00002
NM_000033.4(ABCD1):c.*450T>A rs1479983733 0.00002
NM_000033.4(ABCD1):c.-10C>T rs782754717 0.00002
NM_000033.4(ABCD1):c.1950G>A (p.Ala650=) rs74315281 0.00002
NM_000096.4(CP):c.164A>G (p.Tyr55Cys) rs756029950 0.00002
NM_000096.4(CP):c.1907T>C (p.Met636Thr) rs776909143 0.00002
NM_000096.4(CP):c.199T>C (p.Tyr67His) rs201599525 0.00002
NM_000096.4(CP):c.229G>C (p.Asp77His) rs200683433 0.00002
NM_000096.4(CP):c.2310G>A (p.Lys770=) rs553883583 0.00002
NM_000096.4(CP):c.259C>T (p.Pro87Ser) rs749061188 0.00002
NM_000096.4(CP):c.3185C>A (p.Thr1062Asn) rs749381794 0.00002
NM_000096.4(CP):c.936C>T (p.Asp312=) rs373073229 0.00002
NM_000146.4(FTL):c.-46C>A rs768457741 0.00002
NM_000391.4(TPP1):c.*1560C>T rs541932361 0.00002
NM_000391.4(TPP1):c.*984T>A rs1000719227 0.00002
NM_000391.4(TPP1):c.1281G>A (p.Thr427=) rs577520250 0.00002
NM_000391.4(TPP1):c.1552-9C>T rs369699167 0.00002
NM_000391.4(TPP1):c.890G>A (p.Arg297Gln) rs796053441 0.00002
NM_000447.3(PSEN2):c.222C>G (p.Gly74=) rs773522773 0.00002
NM_000484.4(APP):c.*1015T>G rs202108412 0.00002
NM_000484.4(APP):c.1957C>A (p.Arg653=) rs370979414 0.00002
NM_000484.4(APP):c.574G>A (p.Glu192Lys) rs759517529 0.00002
NM_000484.4(APP):c.674T>C (p.Val225Ala) rs746313873 0.00002
NM_000487.6(ARSA):c.*1714G>A rs183937648 0.00002
NM_000487.6(ARSA):c.*466C>T rs1181265537 0.00002
NM_000487.6(ARSA):c.251C>T (p.Pro84Leu) rs6151411 0.00002
NM_000520.6(HEXA):c.64G>A (p.Ala22Thr) rs756218457 0.00002
NM_000521.4(HEXB):c.1083-14A>C rs776536464 0.00002
NM_000784.4(CYP27A1):c.322C>T (p.Leu108=) rs192344487 0.00002
NM_000784.4(CYP27A1):c.368A>C (p.Lys123Thr) rs778424069 0.00002
NM_000784.4(CYP27A1):c.507G>A (p.Ala169=) rs776260288 0.00002
NM_000784.4(CYP27A1):c.525G>A (p.Thr175=) rs200506778 0.00002
NM_000784.4(CYP27A1):c.666C>T (p.Phe222=) rs751692931 0.00002
NM_000784.4(CYP27A1):c.747G>A (p.Gln249=) rs764766872 0.00002
NM_001042432.2(CLN3):c.*187G>A rs867117606 0.00002
NM_001042432.2(CLN3):c.240G>A (p.Thr80=) rs373911322 0.00002
NM_001042432.2(CLN3):c.748C>T (p.Arg250Trp) rs764881080 0.00002
NM_001130823.3(DNMT1):c.1149T>C (p.Tyr383=) rs766807027 0.00002
NM_001130823.3(DNMT1):c.4554C>T (p.His1518=) rs753248212 0.00002
NM_001130823.3(DNMT1):c.867C>T (p.Asp289=) rs750916721 0.00002
NM_001257180.2(SLC20A2):c.119G>A (p.Gly40Asp) rs1268071663 0.00002
NM_001257180.2(SLC20A2):c.1282C>T (p.Leu428=) rs199804961 0.00002
NM_001257180.2(SLC20A2):c.1701G>A (p.Thr567=) rs771290596 0.00002
NM_001376.5(DYNC1H1):c.*108G>A rs886050378 0.00002
NM_001376.5(DYNC1H1):c.10575T>C (p.Arg3525=) rs763119040 0.00002
NM_001376.5(DYNC1H1):c.10833G>C (p.Arg3611=) rs35143882 0.00002
NM_001376.5(DYNC1H1):c.11056-10A>G rs751676054 0.00002
NM_001376.5(DYNC1H1):c.13088A>C (p.Lys4363Thr) rs141925609 0.00002
NM_001376.5(DYNC1H1):c.13151C>T (p.Ala4384Val) rs201971718 0.00002
NM_001376.5(DYNC1H1):c.2071A>C (p.Met691Leu) rs745510694 0.00002
NM_001376.5(DYNC1H1):c.2352C>T (p.Ser784=) rs149028205 0.00002
NM_001376.5(DYNC1H1):c.3033A>G (p.Glu1011=) rs755543897 0.00002
NM_001376.5(DYNC1H1):c.5424A>G (p.Leu1808=) rs770425304 0.00002
NM_001376.5(DYNC1H1):c.6339G>A (p.Arg2113=) rs776544497 0.00002
NM_001376.5(DYNC1H1):c.6883C>G (p.Leu2295Val) rs1412108587 0.00002
NM_001376.5(DYNC1H1):c.6884T>G (p.Leu2295Arg) rs1422291997 0.00002
NM_001376.5(DYNC1H1):c.7077C>T (p.Cys2359=) rs200885538 0.00002
NM_001376.5(DYNC1H1):c.9178C>T (p.Arg3060Cys) rs773658296 0.00002
NM_001378452.1(ITPR1):c.-244G>A rs577585180 0.00002
NM_001378452.1(ITPR1):c.1671C>T (p.Tyr557=) rs886058613 0.00002
NM_001378452.1(ITPR1):c.1714-12C>T rs765853714 0.00002
NM_001378452.1(ITPR1):c.195C>G (p.Arg65=) rs563347395 0.00002
NM_001378452.1(ITPR1):c.2340G>A (p.Ala780=) rs748274420 0.00002
NM_001378452.1(ITPR1):c.3514C>G (p.Pro1172Ala) rs773251870 0.00002
NM_001378452.1(ITPR1):c.3659C>T (p.Ala1220Val) rs773701050 0.00002
NM_001378452.1(ITPR1):c.5055A>C (p.Leu1685=) rs886058618 0.00002
NM_001378452.1(ITPR1):c.5403C>T (p.Ala1801=) rs765524918 0.00002
NM_001378452.1(ITPR1):c.5974C>T (p.Leu1992=) rs748401794 0.00002
NM_001378452.1(ITPR1):c.6817G>A (p.Val2273Met) rs767779223 0.00002
NM_001378452.1(ITPR1):c.8248A>G (p.Met2750Val) rs201934670 0.00002
NM_001386393.1(PANK2):c.694T>C (p.Leu232=) rs143090515 0.00002
NM_001909.5(CTSD):c.*356C>G rs886048062 0.00002
NM_002087.4(GRN):c.1373C>T (p.Pro458Leu) rs63750537 0.00002
NM_002087.4(GRN):c.139-3T>C rs371119011 0.00002
NM_002087.4(GRN):c.835+14G>C rs753286440 0.00002
NM_002222.6(ITPR1):c.*1311G>A rs772889585 0.00002
NM_002739.5(PRKCG):c.-233C>T rs752173466 0.00002
NM_002739.5(PRKCG):c.529+11G>T rs886054612 0.00002
NM_002778.4(PSAP):c.112A>T (p.Thr38Ser) rs535525554 0.00002
NM_002778.4(PSAP):c.1197C>T (p.His399=) rs748761213 0.00002
NM_002778.4(PSAP):c.40+12G>A rs886047153 0.00002
NM_002778.4(PSAP):c.419C>T (p.Ser140Phe) rs1428436713 0.00002
NM_003560.4(PLA2G6):c.-15C>T rs758224555 0.00002
NM_003560.4(PLA2G6):c.1205T>A (p.Ile402Asn) rs764199136 0.00002
NM_003560.4(PLA2G6):c.1348+10G>A rs761202760 0.00002
NM_003560.4(PLA2G6):c.155A>G (p.Asn52Ser) rs772131195 0.00002
NM_003560.4(PLA2G6):c.1648C>T (p.Arg550Trp) rs886057502 0.00002
NM_003560.4(PLA2G6):c.209G>A (p.Arg70Gln) rs11570607 0.00002
NM_003560.4(PLA2G6):c.2215G>C (p.Asp739His) rs587784349 0.00002
NM_004115.4(FGF14):c.*1296A>C rs540292614 0.00002
NM_004115.4(FGF14):c.651G>A (p.Thr217=) rs151325645 0.00002
NM_004960.3(FUS):c.*1067G>C rs1170967009 0.00002
NM_004960.3(FUS):c.*1225C>T rs1183381896 0.00002
NM_004960.3(FUS):c.*1587G>A rs1446005747 0.00002
NM_004960.3(FUS):c.*1593C>T rs577955571 0.00002
NM_004960.3(FUS):c.*2288C>T rs1418881668 0.00002
NM_004960.3(FUS):c.*3174T>G rs3764324 0.00002
NM_004960.3(FUS):c.*3226G>A rs1004430396 0.00002
NM_004960.3(FUS):c.*356G>A rs886051940 0.00002
NM_004960.4(FUS):c.*10C>T rs529269129 0.00002
NM_004960.4(FUS):c.443G>C (p.Ser148Thr) rs773655049 0.00002
NM_006796.3(AFG3L2):c.-56C>A rs886053619 0.00002
NM_006946.4(SPTBN2):c.3048C>T (p.Gly1016=) rs540897209 0.00002
NM_006946.4(SPTBN2):c.4330G>A (p.Ala1444Thr) rs765561071 0.00002
NM_006946.4(SPTBN2):c.6566C>T (p.Pro2189Leu) rs376249009 0.00002
NM_007126.5(VCP):c.2214A>G (p.Glu738=) rs374391034 0.00002
NM_007126.5(VCP):c.812-7C>G rs764429197 0.00002
NM_007375.4(TARDBP):c.*1795A>G rs886045044 0.00002
NM_007375.4(TARDBP):c.*2334G>A rs182302907 0.00002
NM_007375.4(TARDBP):c.*954A>G rs1295153637 0.00002
NM_007375.4(TARDBP):c.238+9C>T rs376560308 0.00002
NM_007375.4(TARDBP):c.963C>T (p.Ala321=) rs547979470 0.00002
NM_014043.4(CHMP2B):c.*1422G>A rs572323799 0.00002
NM_017882.3(CLN6):c.*725C>T rs369225795 0.00002
NM_017882.3(CLN6):c.49G>A (p.Gly17Ser) rs763944821 0.00002
NM_017882.3(CLN6):c.666-3C>T rs761161043 0.00002
NM_018325.5(C9orf72):c.*673T>C rs886063835 0.00002
NM_018325.5(C9orf72):c.1210G>T (p.Val404Phe) rs541965231 0.00002
NM_022089.4(ATP13A2):c.1112G>A (p.Arg371Gln) rs779347442 0.00002
NM_022089.4(ATP13A2):c.1307-14C>T rs370771306 0.00002
NM_022089.4(ATP13A2):c.1442C>T (p.Thr481Met) rs752000462 0.00002
NM_022089.4(ATP13A2):c.2285G>A (p.Arg762Gln) rs766899425 0.00002
NM_024411.5(PDYN):c.*827A>G rs886056530 0.00002
NM_024411.5(PDYN):c.456C>T (p.Asn152=) rs148113209 0.00002
NM_024411.5(PDYN):c.724G>A (p.Glu242Lys) rs1181111571 0.00002
NM_025000.4(DCAF17):c.*1120A>T rs1281715681 0.00002
NM_025000.4(DCAF17):c.*211C>A rs974336214 0.00002
NM_025000.4(DCAF17):c.*2202A>G rs886055114 0.00002
NM_025000.4(DCAF17):c.230+15A>G rs778241115 0.00002
NM_025219.3(DNAJC5):c.*1915C>T rs1044082802 0.00002
NM_025219.3(DNAJC5):c.*2633G>A rs533825911 0.00002
NM_025219.3(DNAJC5):c.*286G>A rs886056940 0.00002
NM_025219.3(DNAJC5):c.*3870G>A rs886056953 0.00002
NM_025219.3(DNAJC5):c.*4317G>A rs911426732 0.00002
NM_025219.3(DNAJC5):c.162G>A (p.Ala54=) rs781164296 0.00002
NM_025219.3(DNAJC5):c.437C>T (p.Thr146Met) rs779453928 0.00002
NM_025219.3(DNAJC5):c.444C>T (p.Phe148=) rs772254851 0.00002
NM_031448.6(C19orf12):c.*1158C>T rs533617895 0.00002
NM_031448.6(C19orf12):c.*1159C>T rs150649006 0.00002
NM_031448.6(C19orf12):c.*1840G>T rs1045611042 0.00002
NM_031448.6(C19orf12):c.*2692C>T rs569552156 0.00002
NM_031448.6(C19orf12):c.*3272C>T rs1455514664 0.00002
NM_031448.6(C19orf12):c.*944A>G rs549030034 0.00002
NM_033305.3(VPS13A):c.*1095A>G rs956751748 0.00002
NM_033305.3(VPS13A):c.*481G>A rs1057515664 0.00002
NM_033305.3(VPS13A):c.*503C>A rs1057515665 0.00002
NM_033305.3(VPS13A):c.2454A>G (p.Thr818=) rs777234852 0.00002
NM_033305.3(VPS13A):c.3769A>G (p.Ile1257Val) rs770035274 0.00002
NM_033305.3(VPS13A):c.6379-12T>G rs865850464 0.00002
NM_033305.3(VPS13A):c.6573G>T (p.Lys2191Asn) rs780035378 0.00002
NM_033305.3(VPS13A):c.7078G>A (p.Glu2360Lys) rs370401336 0.00002
NM_033305.3(VPS13A):c.7127A>G (p.Asn2376Ser) rs750460516 0.00002
NM_033305.3(VPS13A):c.7294C>G (p.Leu2432Val) rs892450419 0.00002
NM_033305.3(VPS13A):c.8095T>C (p.Ser2699Pro) rs758989403 0.00002
NM_033305.3(VPS13A):c.8157T>C (p.Phe2719=) rs755095881 0.00002
NM_033305.3(VPS13A):c.8350T>G (p.Ser2784Ala) rs368916151 0.00002
NM_173500.4(TTBK2):c.-282A>C rs949605219 0.00002
NM_173500.4(TTBK2):c.2525A>G (p.Glu842Gly) rs202004988 0.00002
NM_173500.4(TTBK2):c.3517C>T (p.Arg1173Trp) rs373828657 0.00002
NM_198994.3(TGM6):c.*97T>A rs1351166866 0.00002
NM_198994.3(TGM6):c.717G>A (p.Gln239=) rs201506281 0.00002
NM_198994.3(TGM6):c.850+4C>T rs765181893 0.00002
NM_000021.4(PSEN1):c.*1626C>A rs886050669 0.00001
NM_000021.4(PSEN1):c.*2357T>A rs1250635285 0.00001
NM_000021.4(PSEN1):c.*23T>C rs886050664 0.00001
NM_000021.4(PSEN1):c.*3619A>G rs886050681 0.00001
NM_000021.4(PSEN1):c.*3669G>A rs748848893 0.00001
NM_000021.4(PSEN1):c.*4339T>C rs757221245 0.00001
NM_000021.4(PSEN1):c.1167C>T (p.Tyr389=) rs1899950667 0.00001
NM_000021.4(PSEN1):c.784T>C (p.Leu262=) rs1369926746 0.00001
NM_000021.4(PSEN1):c.79C>T (p.Arg27Cys) rs886050663 0.00001
NM_000021.4(PSEN1):c.80G>A (p.Arg27His) rs149562759 0.00001
NM_000033.4(ABCD1):c.*287G>A rs1169661425 0.00001
NM_000033.4(ABCD1):c.*360C>T rs1281220823 0.00001
NM_000033.4(ABCD1):c.*530G>A rs67211405 0.00001
NM_000033.4(ABCD1):c.*621C>T rs1383766741 0.00001
NM_000033.4(ABCD1):c.944C>T (p.Ser315Leu) rs782726660 0.00001
NM_000096.4(CP):c.*343A>G rs886058085 0.00001
NM_000096.4(CP):c.1037-3C>A rs754289834 0.00001
NM_000096.4(CP):c.125A>G (p.Lys42Arg) rs886058090 0.00001
NM_000096.4(CP):c.1309A>G (p.Lys437Glu) rs764238637 0.00001
NM_000096.4(CP):c.1379C>T (p.Thr460Ile) rs370863732 0.00001
NM_000096.4(CP):c.1380C>T (p.Thr460=) rs149790356 0.00001
NM_000096.4(CP):c.1478C>T (p.Pro493Leu) rs1391447500 0.00001
NM_000096.4(CP):c.1713+3A>G rs372361874 0.00001
NM_000096.4(CP):c.2180T>C (p.Phe727Ser) rs886058087 0.00001
NM_000096.4(CP):c.2266C>A (p.His756Asn) rs773420516 0.00001
NM_000096.4(CP):c.2611G>A (p.Asp871Asn) rs529607771 0.00001
NM_000096.4(CP):c.2697T>C (p.Val899=) rs17847022 0.00001
NM_000146.4(FTL):c.*131A>T rs374919004 0.00001
NM_000146.4(FTL):c.-86C>T rs1319264120 0.00001
NM_000146.4(FTL):c.-92T>C rs886054563 0.00001
NM_000146.4(FTL):c.362G>A (p.Arg121His) rs769449169 0.00001
NM_000391.4(TPP1):c.*1634T>C rs886048534 0.00001
NM_000391.4(TPP1):c.*171T>C rs953806091 0.00001
NM_000391.4(TPP1):c.*716C>A rs957511928 0.00001
NM_000391.4(TPP1):c.*937C>T rs1339024138 0.00001
NM_000391.4(TPP1):c.-21G>A rs760667554 0.00001
NM_000391.4(TPP1):c.1192C>T (p.Leu398Phe) rs149319579 0.00001
NM_000391.4(TPP1):c.1552-14A>C rs1006965532 0.00001
NM_000391.4(TPP1):c.473A>C (p.Gln158Pro) rs757507462 0.00001
NM_000391.4(TPP1):c.734G>A (p.Arg245His) rs754161261 0.00001
NM_000391.4(TPP1):c.993C>T (p.Ser331=) rs1855585414 0.00001
NM_000447.3(PSEN2):c.*210G>A rs200296479 0.00001
NM_000447.3(PSEN2):c.*72T>C rs886046062 0.00001
NM_000447.3(PSEN2):c.1262C>T (p.Thr421Met) rs756609078 0.00001
NM_000447.3(PSEN2):c.410A>G (p.Asn137Ser) rs749301595 0.00001
NM_000447.3(PSEN2):c.711G>A (p.Ala237=) rs202003390 0.00001
NM_000447.3(PSEN2):c.927C>T (p.Pro309=) rs200326485 0.00001
NM_000484.4(APP):c.*289C>T rs199534609 0.00001
NM_000484.4(APP):c.*356T>G rs1445554583 0.00001
NM_000484.4(APP):c.1008C>T (p.Tyr336=) rs772676633 0.00001
NM_000484.4(APP):c.1224+12T>C rs200725014 0.00001
NM_000484.4(APP):c.126C>T (p.Asn42=) rs745974049 0.00001
NM_000484.4(APP):c.1380A>G (p.Arg460=) rs745834578 0.00001
NM_000484.4(APP):c.1789T>G (p.Leu597Val) rs773379255 0.00001
NM_000484.4(APP):c.2064+10A>T rs202051599 0.00001
NM_000484.4(APP):c.237A>G (p.Glu79=) rs886056996 0.00001
NM_000484.4(APP):c.618G>A (p.Ser206=) rs201022619 0.00001
NM_000487.6(ARSA):c.*10G>A rs772710219 0.00001
NM_000487.6(ARSA):c.*1476G>A rs8142531 0.00001
NM_000487.6(ARSA):c.*1629A>C rs886057644 0.00001
NM_000487.6(ARSA):c.*1712C>T rs1330240384 0.00001
NM_000487.6(ARSA):c.1211-15T>C rs374150980 0.00001
NM_000487.6(ARSA):c.25C>T (p.Leu9Phe) rs886057658 0.00001
NM_000487.6(ARSA):c.470C>T (p.Pro157Leu) rs74315464 0.00001
NM_000487.6(ARSA):c.663C>T (p.Phe221=) rs754484249 0.00001
NM_000487.6(ARSA):c.883G>A (p.Gly295Ser) rs199476349 0.00001
NM_000520.5(HEXA):c.-207A>G rs886051464 0.00001
NM_000520.6(HEXA):c.*12C>T rs532797279 0.00001
NM_000520.6(HEXA):c.1033G>A (p.Gly345Ser) rs775322979 0.00001
NM_000520.6(HEXA):c.1495C>T (p.Arg499Cys) rs121907966 0.00001
NM_000520.6(HEXA):c.271G>A (p.Glu91Lys) rs756740656 0.00001
NM_000521.4(HEXB):c.*105T>C rs777009900 0.00001
NM_000521.4(HEXB):c.156G>A (p.Pro52=) rs758965664 0.00001
NM_000521.4(HEXB):c.842G>A (p.Arg281Gln) rs751678693 0.00001
NM_000784.3(CYP27A1):c.-162C>T rs886055629 0.00001
NM_000784.4(CYP27A1):c.1213C>T (p.Arg405Trp) rs573951598 0.00001
NM_000784.4(CYP27A1):c.1369A>G (p.Thr457Ala) rs373870129 0.00001
NM_000784.4(CYP27A1):c.2T>C (p.Met1Thr) rs759003992 0.00001
NM_001042432.1(CLN3):c.-364C>T rs1422231105 0.00001
NM_001042432.2(CLN3):c.*205G>A rs757923800 0.00001
NM_001042432.2(CLN3):c.*58A>C rs142958639 0.00001
NM_001042432.2(CLN3):c.1033A>T (p.Thr345Ser) rs150986176 0.00001
NM_001042432.2(CLN3):c.308C>T (p.Ala103Val) rs760039703 0.00001
NM_001042432.2(CLN3):c.327C>T (p.Leu109=) rs748293490 0.00001
NM_001042432.2(CLN3):c.436C>T (p.His146Tyr) rs371590088 0.00001
NM_001042432.2(CLN3):c.47-1G>A rs1555469477 0.00001
NM_001042432.2(CLN3):c.761T>C (p.Ile254Thr) rs745948575 0.00001
NM_001042432.2(CLN3):c.837+5G>A rs756848924 0.00001
NM_001042432.2(CLN3):c.941G>A (p.Ser314Asn) rs769358990 0.00001
NM_001130823.3(DNMT1):c.1842G>A (p.Gln614=) rs756623224 0.00001
NM_001130823.3(DNMT1):c.2260G>A (p.Val754Ile) rs762172122 0.00001
NM_001130823.3(DNMT1):c.3036C>G (p.Ile1012Met) rs376854079 0.00001
NM_001130823.3(DNMT1):c.3117-8G>A rs769623856 0.00001
NM_001130823.3(DNMT1):c.3343C>T (p.Pro1115Ser) rs755865204 0.00001
NM_001130823.3(DNMT1):c.3394+7C>T rs886054128 0.00001
NM_001130823.3(DNMT1):c.3537G>A (p.Thr1179=) rs761140414 0.00001
NM_001130823.3(DNMT1):c.3567G>A (p.Ala1189=) rs746163207 0.00001
NM_001130823.3(DNMT1):c.3668G>A (p.Arg1223His) rs757460628 0.00001
NM_001130823.3(DNMT1):c.4074C>T (p.Ser1358=) rs2089536795 0.00001
NM_001130823.3(DNMT1):c.4164C>T (p.Ser1388=) rs779701784 0.00001
NM_001130823.3(DNMT1):c.4204A>T (p.Ile1402Phe) rs886054127 0.00001
NM_001130823.3(DNMT1):c.4657-15G>A rs201805582 0.00001
NM_001130823.3(DNMT1):c.4860C>T (p.Ala1620=) rs576877219 0.00001
NM_001130823.3(DNMT1):c.500C>G (p.Pro167Arg) rs886054129 0.00001
NM_001130823.3(DNMT1):c.526A>C (p.Lys176Gln) rs1020363356 0.00001
NM_001130823.3(DNMT1):c.720A>G (p.Arg240=) rs760733624 0.00001
NM_001130823.3(DNMT1):c.916C>T (p.Pro306Ser) rs761747950 0.00001
NM_001256054.3(C9orf72):c.-47G>A rs886063846 0.00001
NM_001257180.2(SLC20A2):c.*539G>A rs1404962993 0.00001
NM_001257180.2(SLC20A2):c.*925G>T rs1466633393 0.00001
NM_001257180.2(SLC20A2):c.-264-4A>G rs1030242859 0.00001
NM_001257180.2(SLC20A2):c.1197C>T (p.His399=) rs767994782 0.00001
NM_001257180.2(SLC20A2):c.1377G>T (p.Glu459Asp) rs144428935 0.00001
NM_001257180.2(SLC20A2):c.1439C>T (p.Ala480Val) rs748282424 0.00001
NM_001257180.2(SLC20A2):c.679G>A (p.Ala227Thr) rs140978915 0.00001
NM_001257180.2(SLC20A2):c.883C>T (p.Leu295=) rs1212922301 0.00001
NM_001376.5(DYNC1H1):c.11497C>T (p.Leu3833=) rs200735835 0.00001
NM_001376.5(DYNC1H1):c.12705G>A (p.Pro4235=) rs199792795 0.00001
NM_001376.5(DYNC1H1):c.12759C>T (p.Gly4253=) rs529010293 0.00001
NM_001376.5(DYNC1H1):c.13682C>T (p.Thr4561Met) rs1376784009 0.00001
NM_001376.5(DYNC1H1):c.13719C>T (p.Asn4573=) rs886050377 0.00001
NM_001376.5(DYNC1H1):c.249G>C (p.Thr83=) rs1024563256 0.00001
NM_001376.5(DYNC1H1):c.2719-15T>C rs748772899 0.00001
NM_001376.5(DYNC1H1):c.366T>C (p.Thr122=) rs527943422 0.00001
NM_001376.5(DYNC1H1):c.390C>T (p.Pro130=) rs2273439 0.00001
NM_001376.5(DYNC1H1):c.432G>A (p.Ser144=) rs533327200 0.00001
NM_001376.5(DYNC1H1):c.4331C>T (p.Ala1444Val) rs141561289 0.00001
NM_001376.5(DYNC1H1):c.4959C>T (p.His1653=) rs773425996 0.00001
NM_001376.5(DYNC1H1):c.5050G>A (p.Val1684Ile) rs781664182 0.00001
NM_001376.5(DYNC1H1):c.5427A>G (p.Glu1809=) rs2048183675 0.00001
NM_001376.5(DYNC1H1):c.5472C>T (p.Ser1824=) rs769577090 0.00001
NM_001376.5(DYNC1H1):c.579C>T (p.Leu193=) rs1184080545 0.00001
NM_001376.5(DYNC1H1):c.7200C>A (p.Gly2400=) rs549582489 0.00001
NM_001376.5(DYNC1H1):c.7420G>A (p.Ala2474Thr) rs766837403 0.00001
NM_001376.5(DYNC1H1):c.9210G>A (p.Pro3070=) rs201817995 0.00001
NM_001378452.1(ITPR1):c.*1061T>G rs886058652 0.00001
NM_001378452.1(ITPR1):c.*740T>C rs886058650 0.00001
NM_001378452.1(ITPR1):c.*816C>T rs775011992 0.00001
NM_001378452.1(ITPR1):c.-158C>G rs886058523 0.00001
NM_001378452.1(ITPR1):c.-342C>T rs886058522 0.00001
NM_001378452.1(ITPR1):c.-63C>T rs889404498 0.00001
NM_001378452.1(ITPR1):c.1260C>G (p.Thr420=) rs760762106 0.00001
NM_001378452.1(ITPR1):c.1497C>T (p.Phe499=) rs778521012 0.00001
NM_001378452.1(ITPR1):c.2006+13C>A rs1181863539 0.00001
NM_001378452.1(ITPR1):c.2320C>T (p.Leu774=) rs779948053 0.00001
NM_001378452.1(ITPR1):c.2862G>A (p.Met954Ile) rs543514234 0.00001
NM_001378452.1(ITPR1):c.2880C>T (p.Ala960=) rs764301997 0.00001
NM_001378452.1(ITPR1):c.2929G>A (p.Val977Ile) rs370220353 0.00001
NM_001378452.1(ITPR1):c.3162-9C>T rs1159582623 0.00001
NM_001378452.1(ITPR1):c.3228C>T (p.His1076=) rs766131451 0.00001
NM_001378452.1(ITPR1):c.3327+10G>T rs757492529 0.00001
NM_001378452.1(ITPR1):c.3555G>A (p.Val1185=) rs764767201 0.00001
NM_001378452.1(ITPR1):c.3564+9C>T rs564799796 0.00001
NM_001378452.1(ITPR1):c.3648G>A (p.Arg1216=) rs540908870 0.00001
NM_001378452.1(ITPR1):c.474G>A (p.Gly158=) rs886058578 0.00001
NM_001378452.1(ITPR1):c.4785C>T (p.Arg1595=) rs2094755597 0.00001
NM_001378452.1(ITPR1):c.5001G>A (p.Lys1667=) rs1396361560 0.00001
NM_001378452.1(ITPR1):c.5344G>A (p.Gly1782Arg) rs886058619 0.00001
NM_001378452.1(ITPR1):c.6135G>A (p.Leu2045=) rs754434409 0.00001
NM_001378452.1(ITPR1):c.7701+3A>G rs533303665 0.00001
NM_001378452.1(ITPR1):c.819A>G (p.Thr273=) rs886058580 0.00001
NM_001386393.1(PANK2):c.*391C>G rs1273989006 0.00001
NM_001386393.1(PANK2):c.*407A>G rs886056654 0.00001
NM_001386393.1(PANK2):c.-10G>A rs771710781 0.00001
NM_001386393.1(PANK2):c.258C>G (p.Val86=) rs746054643 0.00001
NM_001386393.1(PANK2):c.298+10C>T rs755815669 0.00001
NM_001386393.1(PANK2):c.54G>C (p.Arg18=) rs930563925 0.00001
NM_001386393.1(PANK2):c.66C>T (p.Pro22=) rs754198411 0.00001
NM_001909.5(CTSD):c.*200C>G rs1176741600 0.00001
NM_001909.5(CTSD):c.*330G>T rs955942954 0.00001
NM_001909.5(CTSD):c.-3G>T rs541792699 0.00001
NM_001909.5(CTSD):c.-47A>G rs886048067 0.00001
NM_001909.5(CTSD):c.-53C>T rs530324803 0.00001
NM_001909.5(CTSD):c.1116C>T (p.Gly372=) rs557342549 0.00001
NM_001909.5(CTSD):c.1222G>A (p.Glu408Lys) rs554062876 0.00001
NM_001909.5(CTSD):c.946G>A (p.Gly316Arg) rs764766572 0.00001
NM_002087.3(GRN):c.-173C>T rs886053004 0.00001
NM_002087.3(GRN):c.-179G>C rs886053003 0.00001
NM_002087.4(GRN):c.*12G>T rs775440171 0.00001
NM_002087.4(GRN):c.*273C>T rs971394484 0.00001
NM_002087.4(GRN):c.*30G>A rs374114836 0.00001
NM_002087.4(GRN):c.1019A>T (p.His340Leu) rs775196555 0.00001
NM_002087.4(GRN):c.1180-8C>T rs774308165 0.00001
NM_002087.4(GRN):c.1357G>A (p.Gly453Arg) rs751072702 0.00001
NM_002087.4(GRN):c.1521C>T (p.Phe507=) rs140070738 0.00001
NM_002222.6(ITPR1):c.*1481delG rs886058656 0.00001
NM_002739.5(PRKCG):c.*360G>C rs886054614 0.00001
NM_002739.5(PRKCG):c.*415G>C rs2068821858 0.00001
NM_002739.5(PRKCG):c.*48G>A rs775600229 0.00001
NM_002739.5(PRKCG):c.-169G>C rs777064041 0.00001
NM_002739.5(PRKCG):c.1282-14G>A rs1017029385 0.00001
NM_002739.5(PRKCG):c.1883C>T (p.Pro628Leu) rs1303074743 0.00001
NM_002739.5(PRKCG):c.1906-10T>C rs575700585 0.00001
NM_002739.5(PRKCG):c.1960C>T (p.Leu654=) rs753906154 0.00001
NM_002739.5(PRKCG):c.2086G>A (p.Val696Ile) rs751824637 0.00001
NM_002739.5(PRKCG):c.520C>G (p.His174Asp) rs777612378 0.00001
NM_002739.5(PRKCG):c.637C>A (p.Arg213=) rs750289253 0.00001
NM_002739.5(PRKCG):c.712C>T (p.Arg238Cys) rs771732555 0.00001
NM_002778.4(PSAP):c.*238G>C rs1174797357 0.00001
NM_002778.4(PSAP):c.*90C>T rs1348415797 0.00001
NM_002778.4(PSAP):c.*935A>G rs886047148 0.00001
NM_002778.4(PSAP):c.1146C>T (p.Cys382=) rs573095617 0.00001
NM_002778.4(PSAP):c.1432-4A>G rs775086571 0.00001
NM_002778.4(PSAP):c.250-12G>A rs886047152 0.00001
NM_002778.4(PSAP):c.423C>T (p.Leu141=) rs780891597 0.00001
NM_003560.2(PLA2G6):c.*676T>C rs1175205623 0.00001
NM_003560.4(PLA2G6):c.*35C>T rs532364258 0.00001
NM_003560.4(PLA2G6):c.1414G>A (p.Asp472Asn) rs375874092 0.00001
NM_003560.4(PLA2G6):c.1531C>G (p.Leu511Val) rs886057503 0.00001
NM_003560.4(PLA2G6):c.1600A>G (p.Met534Val) rs748730147 0.00001
NM_003560.4(PLA2G6):c.1903C>T (p.Arg635Ter) rs587784339 0.00001
NM_003560.4(PLA2G6):c.1945C>T (p.Arg649Cys) rs746432450 0.00001
NM_003560.4(PLA2G6):c.2028C>T (p.Ile676=) rs561645994 0.00001
NM_003560.4(PLA2G6):c.67C>T (p.Arg23Trp) rs769876649 0.00001
NM_004115.4(FGF14):c.*1071C>T rs886049933 0.00001
NM_004115.4(FGF14):c.*1072G>A rs886049932 0.00001
NM_004115.4(FGF14):c.*361C>T rs1159330973 0.00001
NM_004115.4(FGF14):c.608-10C>T rs574476283 0.00001
NM_004115.4(FGF14):c.620G>A (p.Arg207Gln) rs760595879 0.00001
NM_004960.3(FUS):c.*1183C>T rs1287894101 0.00001
NM_004960.3(FUS):c.*1273C>T rs371771617 0.00001
NM_004960.3(FUS):c.*1409C>T rs537114134 0.00001
NM_004960.3(FUS):c.*1810C>A rs886051950 0.00001
NM_004960.3(FUS):c.*1851G>A rs1262725950 0.00001
NM_004960.3(FUS):c.*1908C>T rs886051952 0.00001
NM_004960.3(FUS):c.*1916A>G rs759332004 0.00001
NM_004960.3(FUS):c.*2114T>C rs968946643 0.00001
NM_004960.3(FUS):c.*2145G>T rs889675456 0.00001
NM_004960.3(FUS):c.*2348G>A rs775218493 0.00001
NM_004960.3(FUS):c.*270A>G rs886051939 0.00001
NM_004960.3(FUS):c.*282G>A rs928323867 0.00001
NM_004960.3(FUS):c.*2967C>G rs1295852228 0.00001
NM_004960.3(FUS):c.*3185A>G rs1406314738 0.00001
NM_004960.3(FUS):c.*457A>G rs184638686 0.00001
NM_004960.3(FUS):c.*926T>G rs886051943 0.00001
NM_004960.4(FUS):c.-51C>T rs571696003 0.00001
NM_004960.4(FUS):c.1168+6G>C rs750980752 0.00001
NM_004960.4(FUS):c.1483C>T (p.Arg495Ter) rs387906627 0.00001
NM_004960.4(FUS):c.192A>G (p.Thr64=) rs776333956 0.00001
NM_004960.4(FUS):c.39-12C>T rs1162920137 0.00001
NM_004960.4(FUS):c.403A>G (p.Ser135Gly) rs886051934 0.00001
NM_004960.4(FUS):c.802C>G (p.Pro268Ala) rs1159514550 0.00001
NM_004960.4(FUS):c.951G>A (p.Thr317=) rs771216742 0.00001
NM_006749.4(SLC20A2):c.-457G>T rs1206770675 0.00001
NM_006749.4(SLC20A2):c.-568C>A rs1003849503 0.00001
NM_006749.5(SLC20A2):c.-279C>T rs1813220345 0.00001
NM_006749.5(SLC20A2):c.-366T>G rs1335860382 0.00001
NM_006796.3(AFG3L2):c.*585A>C rs886053611 0.00001
NM_006796.3(AFG3L2):c.1089A>G (p.Gly363=) rs747246135 0.00001
NM_006796.3(AFG3L2):c.1796G>A (p.Arg599His) rs1263405472 0.00001
NM_006796.3(AFG3L2):c.2035C>T (p.Arg679Cys) rs551015841 0.00001
NM_006796.3(AFG3L2):c.215-5A>C rs371046479 0.00001
NM_006796.3(AFG3L2):c.2175+14G>A rs758755215 0.00001
NM_006796.3(AFG3L2):c.2346G>T (p.Glu782Asp) rs886053614 0.00001
NM_006796.3(AFG3L2):c.267T>G (p.Pro89=) rs1308467906 0.00001
NM_006796.3(AFG3L2):c.365A>T (p.Lys122Ile) rs915684170 0.00001
NM_006946.4(SPTBN2):c.2412C>T (p.Asp804=) rs770555771 0.00001
NM_006946.4(SPTBN2):c.2683G>A (p.Glu895Lys) rs145702618 0.00001
NM_006946.4(SPTBN2):c.2685G>A (p.Glu895=) rs758091474 0.00001
NM_006946.4(SPTBN2):c.3453A>G (p.Gly1151=) rs768932281 0.00001
NM_006946.4(SPTBN2):c.3972C>T (p.Ala1324=) rs886048550 0.00001
NM_006946.4(SPTBN2):c.4279-8G>A rs369614446 0.00001
NM_006946.4(SPTBN2):c.4714C>T (p.Arg1572Cys) rs368125962 0.00001
NM_006946.4(SPTBN2):c.5248C>A (p.Arg1750Ser) rs886048548 0.00001
NM_006946.4(SPTBN2):c.54G>A (p.Gln18=) rs377573278 0.00001
NM_006946.4(SPTBN2):c.57C>T (p.Tyr19=) rs749188722 0.00001
NM_006946.4(SPTBN2):c.6374+15G>A rs777633339 0.00001
NM_006946.4(SPTBN2):c.6502-9C>T rs545190212 0.00001
NM_006946.4(SPTBN2):c.657-7C>G rs758925003 0.00001
NM_006946.4(SPTBN2):c.6723-11G>A rs758435668 0.00001
NM_006946.4(SPTBN2):c.6757G>A (p.Gly2253Arg) rs201670045 0.00001
NM_006946.4(SPTBN2):c.6897-4A>G rs1262014282 0.00001
NM_007126.5(VCP):c.*184G>A rs886063889 0.00001
NM_007126.5(VCP):c.*885G>A rs925146670 0.00001
NM_007126.5(VCP):c.335A>G (p.Lys112Arg) rs766787045 0.00001
NM_007126.5(VCP):c.446-4G>A rs370700002 0.00001
NM_007126.5(VCP):c.697A>G (p.Ile233Val) rs750335399 0.00001
NM_007375.4(TARDBP):c.*2046T>G rs886045047 0.00001
NM_007375.4(TARDBP):c.*2252A>G rs552057039 0.00001
NM_007375.4(TARDBP):c.*2750G>A rs779882516 0.00001
NM_007375.4(TARDBP):c.*551C>G rs750948407 0.00001
NM_007375.4(TARDBP):c.*556G>A rs776417983 0.00001
NM_007375.4(TARDBP):c.*591G>A rs759396520 0.00001
NM_007375.4(TARDBP):c.499A>G (p.Met167Val) rs886045035 0.00001
NM_014043.4(CHMP2B):c.*1482T>A rs910263560 0.00001
NM_014043.4(CHMP2B):c.*1641A>C rs886058912 0.00001
NM_014043.4(CHMP2B):c.*901T>C rs1014335812 0.00001
NM_014043.4(CHMP2B):c.-144C>T rs1441064038 0.00001
NM_014043.4(CHMP2B):c.-205C>T rs556556377 0.00001
NM_014043.4(CHMP2B):c.-34G>A rs199854996 0.00001
NM_017882.3(CLN6):c.*300C>T rs886051439 0.00001
NM_017882.3(CLN6):c.*446C>T rs1249079296 0.00001
NM_017882.3(CLN6):c.*532T>A rs886051437 0.00001
NM_017882.3(CLN6):c.*749T>C rs1189755650 0.00001
NM_017882.3(CLN6):c.-22C>A rs886051448 0.00001
NM_017882.3(CLN6):c.255C>G (p.Phe85Leu) rs545955828 0.00001
NM_018325.5(C9orf72):c.*224C>G rs1333786274 0.00001
NM_018325.5(C9orf72):c.*250T>C rs886063840 0.00001
NM_018325.5(C9orf72):c.*552A>C rs886063837 0.00001
NM_018325.5(C9orf72):c.*651G>T rs548883941 0.00001
NM_018325.5(C9orf72):c.*73G>A rs886063841 0.00001
NM_018325.5(C9orf72):c.1002C>T (p.Ser334=) rs780494226 0.00001
NM_018325.5(C9orf72):c.1259+8A>C rs182259442 0.00001
NM_018325.5(C9orf72):c.1424G>A (p.Arg475Gln) rs750045383 0.00001
NM_018325.5(C9orf72):c.985C>T (p.Arg329Cys) rs773251849 0.00001
NM_022089.4(ATP13A2):c.*182C>T rs970274162 0.00001
NM_022089.4(ATP13A2):c.-99G>C rs569658051 0.00001
NM_022089.4(ATP13A2):c.1065G>A (p.Thr355=) rs750819290 0.00001
NM_022089.4(ATP13A2):c.1314C>A (p.Leu438=) rs764435162 0.00001
NM_022089.4(ATP13A2):c.1420C>G (p.Pro474Ala) rs530658980 0.00001
NM_022089.4(ATP13A2):c.1744G>A (p.Gly582Ser) rs886045581 0.00001
NM_022089.4(ATP13A2):c.1774G>A (p.Asp592Asn) rs750921184 0.00001
NM_022089.4(ATP13A2):c.1870G>A (p.Val624Ile) rs368423685 0.00001
NM_022089.4(ATP13A2):c.2252-11A>G rs775547036 0.00001
NM_022089.4(ATP13A2):c.2381T>C (p.Met794Thr) rs151222153 0.00001
NM_022089.4(ATP13A2):c.2440G>A (p.Val814Met) rs748454159 0.00001
NM_022089.4(ATP13A2):c.2609+10C>T rs759204814 0.00001
NM_022089.4(ATP13A2):c.2770C>T (p.Arg924Cys) rs567866687 0.00001
NM_022089.4(ATP13A2):c.3235+15G>A rs761031832 0.00001
NM_022089.4(ATP13A2):c.515G>A (p.Arg172His) rs776601823 0.00001
NM_022124.6(CDH23):c.*439C>T rs140312023 0.00001
NM_022124.6(CDH23):c.9860G>A (p.Gly3287Asp) rs562590210 0.00001
NM_024411.5(PDYN):c.*1336G>C rs1402086088 0.00001
NM_024411.5(PDYN):c.*1532C>T rs886056528 0.00001
NM_024411.5(PDYN):c.*671T>C rs1290356604 0.00001
NM_024411.5(PDYN):c.*872C>A rs933617446 0.00001
NM_024411.5(PDYN):c.257C>T (p.Ser86Leu) rs781363760 0.00001
NM_024411.5(PDYN):c.501C>T (p.Asp167=) rs886056535 0.00001
NM_024411.5(PDYN):c.571G>T (p.Gly191Trp) rs767807436 0.00001
NM_025000.4(DCAF17):c.*105A>G rs551802113 0.00001
NM_025000.4(DCAF17):c.*153C>G rs1478413852 0.00001
NM_025000.4(DCAF17):c.*1540C>T rs1398582890 0.00001
NM_025000.4(DCAF17):c.*1557T>A rs920241912 0.00001
NM_025000.4(DCAF17):c.*2241T>C rs1309335857 0.00001
NM_025000.4(DCAF17):c.*2535C>A rs1339928313 0.00001
NM_025000.4(DCAF17):c.*2947A>C rs972785459 0.00001
NM_025000.4(DCAF17):c.*3551C>T rs947332859 0.00001
NM_025000.4(DCAF17):c.*423T>C rs1317171792 0.00001
NM_025000.4(DCAF17):c.*432C>G rs772229487 0.00001
NM_025000.4(DCAF17):c.*48A>T rs753380867 0.00001
NM_025000.4(DCAF17):c.*876G>C rs370150751 0.00001
NM_025000.4(DCAF17):c.-206C>G rs886055103 0.00001
NM_025000.4(DCAF17):c.-212C>T rs1350956940 0.00001
NM_025000.4(DCAF17):c.-213C>T rs377182072 0.00001
NM_025000.4(DCAF17):c.-9C>G rs886055105 0.00001
NM_025000.4(DCAF17):c.1091+13A>G rs886055107 0.00001
NM_025000.4(DCAF17):c.137A>T (p.Lys46Ile) rs375426959 0.00001
NM_025219.3(DNAJC5):c.*1137A>G rs886056943 0.00001
NM_025219.3(DNAJC5):c.*1604C>T rs554749952 0.00001
NM_025219.3(DNAJC5):c.*1873C>T rs1349641328 0.00001
NM_025219.3(DNAJC5):c.*1893C>A rs1315620182 0.00001
NM_025219.3(DNAJC5):c.*1936T>C rs574966040 0.00001
NM_025219.3(DNAJC5):c.*2545C>G rs577579444 0.00001
NM_025219.3(DNAJC5):c.*4057C>T rs886056954 0.00001
NM_025219.3(DNAJC5):c.*4375C>T rs1465625052 0.00001
NM_025219.3(DNAJC5):c.*686C>T rs886056942 0.00001
NM_025219.3(DNAJC5):c.*80A>G rs886056936 0.00001
NM_025219.3(DNAJC5):c.*944A>T rs774407862 0.00001
NM_025219.3(DNAJC5):c.-12+11T>A rs1216840252 0.00001
NM_025219.3(DNAJC5):c.122A>G (p.Lys41Arg) rs528096976 0.00001
NM_031448.6(C19orf12):c.*1037A>G rs886054318 0.00001
NM_031448.6(C19orf12):c.*1178C>A rs886054317 0.00001
NM_031448.6(C19orf12):c.*1453C>T rs886054316 0.00001
NM_031448.6(C19orf12):c.*1648C>T rs1470866753 0.00001
NM_031448.6(C19orf12):c.*1671C>T rs751700304 0.00001
NM_031448.6(C19orf12):c.*1870G>C rs1188670767 0.00001
NM_031448.6(C19orf12):c.*1940T>C rs148675828 0.00001
NM_031448.6(C19orf12):c.*2058T>C rs529341141 0.00001
NM_031448.6(C19orf12):c.*20G>A rs770407188 0.00001
NM_031448.6(C19orf12):c.*2208G>A rs796818328 0.00001
NM_031448.6(C19orf12):c.*2310C>T rs370293548 0.00001
NM_031448.6(C19orf12):c.*2328G>A rs1464022204 0.00001
NM_031448.6(C19orf12):c.*3026G>C rs377009197 0.00001
NM_031448.6(C19orf12):c.*3091A>T rs1175463014 0.00001
NM_031448.6(C19orf12):c.*3294C>G rs886054313 0.00001
NM_031448.6(C19orf12):c.*3300C>T rs1050118432 0.00001
NM_031448.6(C19orf12):c.*3314C>T rs779057343 0.00001
NM_031448.6(C19orf12):c.*3492G>T rs886054312 0.00001
NM_031448.6(C19orf12):c.*3520C>T rs886054311 0.00001
NM_031448.6(C19orf12):c.*3697C>T rs1180327296 0.00001
NM_031448.6(C19orf12):c.*554G>A rs1051290472 0.00001
NM_031448.6(C19orf12):c.*5C>T rs1298758495 0.00001
NM_031448.6(C19orf12):c.-11+163G>A rs886054324 0.00001
NM_031448.6(C19orf12):c.-1G>A rs973794044 0.00001
NM_033305.3(VPS13A):c.*1078T>G rs951051787 0.00001
NM_033305.3(VPS13A):c.*1140A>T rs1360751714 0.00001
NM_033305.3(VPS13A):c.*663T>C rs1172989781 0.00001
NM_033305.3(VPS13A):c.1061A>G (p.His354Arg) rs202123189 0.00001
NM_033305.3(VPS13A):c.1396C>T (p.Leu466Phe) rs1042881230 0.00001
NM_033305.3(VPS13A):c.1614T>A (p.Asp538Glu) rs1238647708 0.00001
NM_033305.3(VPS13A):c.1929A>G (p.Lys643=) rs749655544 0.00001
NM_033305.3(VPS13A):c.3211A>G (p.Asn1071Asp) rs769146492 0.00001
NM_033305.3(VPS13A):c.3250A>G (p.Met1084Val) rs368157358 0.00001
NM_033305.3(VPS13A):c.3420A>G (p.Thr1140=) rs1274810899 0.00001
NM_033305.3(VPS13A):c.3813-6T>C rs1057515654 0.00001
NM_033305.3(VPS13A):c.3961T>C (p.Phe1321Leu) rs781501141 0.00001
NM_033305.3(VPS13A):c.4325A>G (p.Tyr1442Cys) rs1380006812 0.00001
NM_033305.3(VPS13A):c.4586C>G (p.Thr1529Ser) rs72744294 0.00001
NM_033305.3(VPS13A):c.4602T>C (p.Ser1534=) rs752134753 0.00001
NM_033305.3(VPS13A):c.4915C>G (p.Pro1639Ala) rs377532527 0.00001
NM_033305.3(VPS13A):c.5191A>G (p.Ile1731Val) rs1016550070 0.00001
NM_033305.3(VPS13A):c.5795C>A (p.Thr1932Asn) rs1034458059 0.00001
NM_033305.3(VPS13A):c.587A>G (p.His196Arg) rs750690177 0.00001
NM_033305.3(VPS13A):c.6131A>G (p.Tyr2044Cys) rs754391863 0.00001
NM_033305.3(VPS13A):c.6184C>T (p.Leu2062Phe) rs1830592063 0.00001
NM_033305.3(VPS13A):c.6680A>G (p.Tyr2227Cys) rs1168343737 0.00001
NM_033305.3(VPS13A):c.6906T>A (p.Ser2302Arg) rs771133301 0.00001
NM_033305.3(VPS13A):c.6978A>G (p.Ser2326=) rs192942248 0.00001
NM_033305.3(VPS13A):c.7490G>A (p.Arg2497His) rs766585218 0.00001
NM_033305.3(VPS13A):c.7811G>A (p.Arg2604His) rs762985818 0.00001
NM_033305.3(VPS13A):c.7853A>G (p.His2618Arg) rs558287069 0.00001
NM_033305.3(VPS13A):c.8649T>G (p.Phe2883Leu) rs757219762 0.00001
NM_033305.3(VPS13A):c.8668-3T>C rs774310931 0.00001
NM_033305.3(VPS13A):c.9234T>C (p.His3078=) rs766370355 0.00001
NM_033305.3(VPS13A):c.927A>G (p.Ala309=) rs749004984 0.00001
NM_153638.4(PANK2):c.104C>T (p.Pro35Leu) rs769505139 0.00001
NM_173500.4(TTBK2):c.*1243C>T rs1182692526 0.00001
NM_173500.4(TTBK2):c.-184G>C rs1439973590 0.00001
NM_173500.4(TTBK2):c.1173C>G (p.Asn391Lys) rs759246710 0.00001
NM_173500.4(TTBK2):c.1360C>T (p.Arg454Cys) rs758352842 0.00001
NM_173500.4(TTBK2):c.1930G>C (p.Ala644Pro) rs756629999 0.00001
NM_173500.4(TTBK2):c.2344A>G (p.Ile782Val) rs749726502 0.00001
NM_173500.4(TTBK2):c.304G>T (p.Ala102Ser) rs201683789 0.00001
NM_173500.4(TTBK2):c.3336C>G (p.Ala1112=) rs769037057 0.00001
NM_173500.4(TTBK2):c.3427A>G (p.Ser1143Gly) rs777159553 0.00001
NM_173500.4(TTBK2):c.589G>A (p.Ala197Thr) rs367612243 0.00001
NM_198994.3(TGM6):c.1332G>A (p.Pro444=) rs763791368 0.00001
NM_198994.3(TGM6):c.1384T>C (p.Phe462Leu) rs199968743 0.00001
NM_198994.3(TGM6):c.1478C>T (p.Pro493Leu) rs776319756 0.00001
NM_198994.3(TGM6):c.1501G>A (p.Val501Met) rs764377731 0.00001
NM_198994.3(TGM6):c.390C>T (p.Gly130=) rs751704232 0.00001
NM_198994.3(TGM6):c.787A>G (p.Lys263Glu) rs886056552 0.00001
NM_198994.3(TGM6):c.878G>A (p.Arg293Gln) rs776511523 0.00001
NM_000021.3(PSEN1):c.-241G>T rs886050661
NM_000021.4(PSEN1):c.*1145G>A rs886050666
NM_000021.4(PSEN1):c.*1484A>C rs147866042
NM_000021.4(PSEN1):c.*1716TATGA[4] rs886050670
NM_000021.4(PSEN1):c.*1858T>A rs1943770310
NM_000021.4(PSEN1):c.*1867ACAG[1] rs563773430
NM_000021.4(PSEN1):c.*1884G>T rs1900111689
NM_000021.4(PSEN1):c.*1910A>G rs1900112018
NM_000021.4(PSEN1):c.*2633G>A rs564490926
NM_000021.4(PSEN1):c.*2695G>A rs1900127252
NM_000021.4(PSEN1):c.*2758T>G rs886050677
NM_000021.4(PSEN1):c.*3033CT[2] rs886050680
NM_000021.4(PSEN1):c.*3321G>C rs983079104
NM_000021.4(PSEN1):c.*3484A>C rs1900141899
NM_000021.4(PSEN1):c.*3538C>G rs362392
NM_000021.4(PSEN1):c.*360A>C rs202176028
NM_000021.4(PSEN1):c.*3831C>T rs362395
NM_000021.4(PSEN1):c.*400G>A rs1190503987
NM_000021.4(PSEN1):c.*438C>T rs1900072345
NM_000021.4(PSEN1):c.*562T>C rs1594760800
NM_000021.4(PSEN1):c.*595T>C rs886050665
NM_000021.4(PSEN1):c.*657C>T rs201752111
NM_000021.4(PSEN1):c.*801C>T rs201513640
NM_000021.4(PSEN1):c.-201A>C rs1896745950
NM_000021.4(PSEN1):c.125G>A (p.Arg42Gln) rs367775281
NM_000021.4(PSEN1):c.375G>C (p.Val125=) rs1897955823
NM_000021.4(PSEN1):c.792G>T (p.Pro264=) rs150301281
NM_000021.4(PSEN1):c.843G>A (p.Thr281=) rs186495252
NM_000033.4(ABCD1):c.*10C>T rs1057515814
NM_000033.4(ABCD1):c.*12C>T rs1413638807
NM_000033.4(ABCD1):c.*196C>G rs367591611
NM_000033.4(ABCD1):c.*259A>G rs374092960
NM_000033.4(ABCD1):c.*334C>G rs1252368354
NM_000033.4(ABCD1):c.*409C>G rs2091778411
NM_000033.4(ABCD1):c.*476A>G rs372234126
NM_000033.4(ABCD1):c.*481G>T rs199942817
NM_000033.4(ABCD1):c.*548GAGAGGG[1] rs1057515816
NM_000033.4(ABCD1):c.*564G>A rs782819878
NM_000033.4(ABCD1):c.*795C>T rs1057515817
NM_000033.4(ABCD1):c.*802G>T rs879957599
NM_000033.4(ABCD1):c.*805G>C rs879979866
NM_000033.4(ABCD1):c.*825C>T rs1557055736
NM_000033.4(ABCD1):c.*830A>G rs1557055737
NM_000033.4(ABCD1):c.*831G>T rs879964075
NM_000033.4(ABCD1):c.*870G>T rs72616452
NM_000033.4(ABCD1):c.*901G>A rs75637470
NM_000033.4(ABCD1):c.*911G>A rs2091780866
NM_000033.4(ABCD1):c.*948C>T rs112109783
NM_000033.4(ABCD1):c.*969A>G rs1557055778
NM_000033.4(ABCD1):c.*980T>C rs1557055787
NM_000033.4(ABCD1):c.-342G>A rs912340339
NM_000033.4(ABCD1):c.1092C>G (p.Ala364=) rs782250326
NM_000033.4(ABCD1):c.1390C>T (p.Arg464Ter) rs128624221
NM_000033.4(ABCD1):c.1428C>T (p.Cys476=) rs141446687
NM_000033.4(ABCD1):c.1489-6del rs398123101
NM_000033.4(ABCD1):c.1816T>C (p.Ser606Pro) rs201774661
NM_000033.4(ABCD1):c.1979G>A (p.Arg660Gln) rs1557055340
NM_000033.4(ABCD1):c.2043C>T (p.Phe681=) rs782327280
NM_000033.4(ABCD1):c.22C>A (p.Arg8=) rs2091702555
NM_000033.4(ABCD1):c.290A>G (p.His97Arg) rs2091705296
NM_000033.4(ABCD1):c.900+7C>T rs2091712393
NM_000096.4(CP):c.*1007T>A rs36120450
NM_000096.4(CP):c.*373C>T rs370247691
NM_000096.4(CP):c.*536G>C rs1725167347
NM_000096.4(CP):c.*583T>C rs886058084
NM_000096.4(CP):c.*828dup rs35907111
NM_000096.4(CP):c.1199C>A (p.Ala400Glu) rs1446212124
NM_000096.4(CP):c.1774C>G (p.Leu592Val) rs200226362
NM_000096.4(CP):c.1774C>T (p.Leu592Phe) rs200226362
NM_000096.4(CP):c.1864+1G>C rs1559942361
NM_000096.4(CP):c.1973T>C (p.Ile658Thr) rs1726190460
NM_000096.4(CP):c.2268T>C (p.His756=) rs765341479
NM_000096.4(CP):c.2286-14dup rs561633350
NM_000096.4(CP):c.2286-15G>T rs34861155
NM_000096.4(CP):c.2496C>T (p.Tyr832=) rs1199272207
NM_000096.4(CP):c.2554+14C>G rs200965170
NM_000096.4(CP):c.2557G>A (p.Glu853Lys) rs886058086
NM_000096.4(CP):c.2621G>A (p.Cys874Tyr) rs570400135
NM_000096.4(CP):c.508G>A (p.Gly170Arg) rs886058089
NM_000096.4(CP):c.701A>G (p.Asp234Gly) rs769311718
NM_000096.4(CP):c.850T>C (p.Tyr284His) rs886058088
NM_000096.4(CP):c.921G>A (p.Lys307=) rs543777038
NM_000146.4(FTL):c.*76G>A rs2038463168
NM_000146.4(FTL):c.-173C>G rs1053572388
NM_000146.4(FTL):c.-186C>A rs981348025
NM_000146.4(FTL):c.103-14A>C rs769222073
NM_000146.4(FTL):c.103-14A>G rs769222073
NM_000146.4(FTL):c.181G>A (p.Glu61Lys) rs2038446561
NM_000146.4(FTL):c.232C>T (p.Leu78Phe) rs751857518
NM_000146.4(FTL):c.234C>T (p.Leu78=) rs559383814
NM_000146.4(FTL):c.324C>T (p.Asn108=) rs754652110
NM_000306.4(POU1F1):c.*138T>A rs190287993
NM_000306.4(POU1F1):c.*139dup rs368061882
NM_000306.4(POU1F1):c.*213= rs6792500
NM_000391.4(TPP1):c.*1000T>C rs886048538
NM_000391.4(TPP1):c.*1108T>C rs1855527274
NM_000391.4(TPP1):c.*124C>T rs985151429
NM_000391.4(TPP1):c.*1302A>T rs886048537
NM_000391.4(TPP1):c.*1311C>T rs886048536
NM_000391.4(TPP1):c.*1508G>A rs561558362
NM_000391.4(TPP1):c.*1741G>T rs1299016829
NM_000391.4(TPP1):c.1116C>T (p.His372=) rs751321300
NM_000391.4(TPP1):c.1496dup (p.Leu500fs) rs756963463
NM_000391.4(TPP1):c.65G>A (p.Ser22Asn) rs202025584
NM_000391.4(TPP1):c.886+7C>T rs886048543
NM_000447.3(PSEN2):c.*479G>T rs201177570
NM_000447.3(PSEN2):c.-136G>A rs1660571955
NM_000447.3(PSEN2):c.-144A>G rs886046061
NM_000447.3(PSEN2):c.-278C>A rs199532840
NM_000447.3(PSEN2):c.-278C>T rs199532840
NM_000447.3(PSEN2):c.1077C>T (p.Gly359=) rs753503617
NM_000447.3(PSEN2):c.1245C>T (p.Ala415=) rs1387034807
NM_000447.3(PSEN2):c.38T>C (p.Val13Ala) rs766853710
NM_000447.3(PSEN2):c.729C>G (p.Phe243Leu) rs371562367
NM_000447.3(PSEN2):c.937G>A (p.Gly313Ser) rs756225509
NM_000484.3(APP):c.-186G>T rs886056999
NM_000484.4(APP):c.*521T>C rs2036961192
NM_000484.4(APP):c.*735G>A rs202132811
NM_000484.4(APP):c.*7G>A rs201922766
NM_000484.4(APP):c.*810C>T rs2036941224
NM_000484.4(APP):c.*97C>A rs886056992
NM_000484.4(APP):c.-111G>T rs459543
NM_000484.4(APP):c.-170C>A rs538664273
NM_000484.4(APP):c.121C>G (p.Leu41Val) rs886056997
NM_000484.4(APP):c.1530G>C (p.Lys510Asn) rs767201930
NM_000484.4(APP):c.1641G>T (p.Leu547=) rs199860711
NM_000484.4(APP):c.1642C>G (p.Leu548Val) rs886056994
NM_000484.4(APP):c.1664C>T (p.Ala555Val) rs886056993
NM_000484.4(APP):c.2012T>C (p.Met671Thr) rs2038161468
NM_000484.4(APP):c.2175G>C (p.Lys725Asn) rs1569014114
NM_000484.4(APP):c.468+11A>G rs886056995
NM_000484.4(APP):c.751G>A (p.Gly251Ser) rs2044360130
NM_000484.4(APP):c.819CAC[8] (p.Thr280dup) rs527890624
NM_000484.4(APP):c.881A>G (p.Gln294Arg) rs1371336849
NM_000484.4(APP):c.966C>G (p.Gly322=) rs200016837
NM_000487.6(ARSA):c.*1012C>T rs886057650
NM_000487.6(ARSA):c.*1049T>A rs868511268
NM_000487.6(ARSA):c.*1062dup rs763817529
NM_000487.6(ARSA):c.*1073G>T rs185955658
NM_000487.6(ARSA):c.*1157G>T rs775298785
NM_000487.6(ARSA):c.*1206G>T rs867069706
NM_000487.6(ARSA):c.*1238T>G rs6010033
NM_000487.6(ARSA):c.*125C>G rs886057656
NM_000487.6(ARSA):c.*1267C>T rs886057648
NM_000487.6(ARSA):c.*127A>T rs977218325
NM_000487.6(ARSA):c.*130C>A rs886057655
NM_000487.6(ARSA):c.*1351C>G rs131717
NM_000487.6(ARSA):c.*1372G>A rs190478606
NM_000487.6(ARSA):c.*1372G>T rs190478606
NM_000487.6(ARSA):c.*1404dup rs746677403
NM_000487.6(ARSA):c.*1475C>G rs184515588
NM_000487.6(ARSA):c.*1477C>T rs2082619608
NM_000487.6(ARSA):c.*1576A>C rs886057647
NM_000487.6(ARSA):c.*1617G>A rs886057646
NM_000487.6(ARSA):c.*1627G>C rs886057645
NM_000487.6(ARSA):c.*165G>A rs144366706
NM_000487.6(ARSA):c.*1825C>T rs2082615571
NM_000487.6(ARSA):c.*2023G>C rs886057642
NM_000487.6(ARSA):c.*2065C>T rs776085194
NM_000487.6(ARSA):c.*2088CCT[1] rs886057641
NM_000487.6(ARSA):c.*2134C>A rs911625206
NM_000487.6(ARSA):c.*2205A>T rs886057640
NM_000487.6(ARSA):c.*2283A>G rs2082610056
NM_000487.6(ARSA):c.*389A>G rs547501508
NM_000487.6(ARSA):c.*413T>G rs986551305
NM_000487.6(ARSA):c.*624G>T rs2082632282
NM_000487.6(ARSA):c.*643T>C rs886057653
NM_000487.6(ARSA):c.*777C>G rs115593886
NM_000487.6(ARSA):c.*874T>C rs886057651
NM_000487.6(ARSA):c.-20G>C rs886057659
NM_000487.6(ARSA):c.-343C>T rs1028447908
NM_000487.6(ARSA):c.-362G>C rs886057662
NM_000487.6(ARSA):c.1114C>T (p.Arg372Trp) rs74315476
NM_000487.6(ARSA):c.1210+13C>T rs6151426
NM_000487.6(ARSA):c.1434G>C (p.Gln478His) rs769169905
NM_000487.6(ARSA):c.151C>G (p.Leu51Val) rs1348625953
NM_000487.6(ARSA):c.296G>A (p.Arg99Gln) rs759295985
NM_000487.6(ARSA):c.495G>A (p.Pro165=) rs145299072
NM_000487.6(ARSA):c.778G>T (p.Val260Leu) rs2082674602
NM_000487.6(ARSA):c.884G>A (p.Gly295Asp) rs199476387
NM_000520.6(HEXA):c.*200T>C rs886051461
NM_000520.6(HEXA):c.1421+15G>C rs185764548
NM_000521.3(HEXB):c.-63G>A rs1748827834
NM_000521.4(HEXB):c.*82_*83del rs56312827
NM_000521.4(HEXB):c.1613+14del rs754704434
NM_000521.4(HEXB):c.669G>A (p.Leu223=) rs773385077
NM_000521.4(HEXB):c.670-14_670-13del rs886060751
NM_000521.4(HEXB):c.78G>A (p.Met26Ile) rs886060750
NM_000784.3(CYP27A1):c.-182C>T rs886055628
NM_000784.3(CYP27A1):c.-357dup rs397795841
NM_000784.4(CYP27A1):c.*153G>C rs886055631
NM_000784.4(CYP27A1):c.*209G>A rs540140393
NM_000784.4(CYP27A1):c.1471G>T (p.Ala491Ser) rs72551323
NM_000784.4(CYP27A1):c.1514C>T (p.Thr505Met) rs76822427
NM_000784.4(CYP27A1):c.1559A>C (p.Lys520Thr) rs1943774432
NM_000784.4(CYP27A1):c.309G>A (p.Gln103=) rs1306558952
NM_000784.4(CYP27A1):c.344A>G (p.Glu115Gly) rs1943690611
NM_000784.4(CYP27A1):c.398G>A (p.Trp133Ter) rs1559391480
NM_000784.4(CYP27A1):c.447-3C>T rs770217459
NM_000784.4(CYP27A1):c.491G>A (p.Arg164Gln) rs148417330
NM_000784.4(CYP27A1):c.506C>T (p.Ala169Val) rs59443548
NM_000784.4(CYP27A1):c.526del (p.Asp176fs) rs765512351
NM_000784.4(CYP27A1):c.586_587del (p.Ser196fs) rs758739930
NM_000784.4(CYP27A1):c.885C>T (p.Ala295=) rs1943740072
NM_001020658.2(PUM1):c.7G>A (p.Val3Ile) rs1187853515
NM_001020658.2(PUM1):c.896C>A (p.Pro299His) rs1641834551
NM_001029896.2(WDR45):c.5C>T (p.Thr2Ile) rs2147817901
NM_001029896.2(WDR45):c.725+2T>A
NM_001029896.2(WDR45):c.973+1G>A rs869312661
NM_001042432.1(CLN3):c.-210G>T rs2046326373
NM_001042432.1(CLN3):c.-218G>A rs886051874
NM_001042432.1(CLN3):c.-279G>C rs1232959828
NM_001042432.2(CLN3):c.*111G>T rs2046010035
NM_001042432.2(CLN3):c.-112C>T rs572212180
NM_001042432.2(CLN3):c.-77+14G>T rs886051873
NM_001042432.2(CLN3):c.1057-14C>A rs773692029
NM_001042432.2(CLN3):c.1084G>A (p.Asp362Asn) rs2046022965
NM_001042432.2(CLN3):c.1210C>A (p.His404Asn) rs146610181
NM_001042432.2(CLN3):c.206C>G (p.Ser69Trp) rs769840061
NM_001042432.2(CLN3):c.270T>G (p.Phe90Leu) rs145520962
NM_001042432.2(CLN3):c.461-3C>T rs181995380
NM_001042432.2(CLN3):c.565G>T (p.Gly189Trp) rs386833731
NM_001042432.2(CLN3):c.868G>A (p.Val290Ile) rs369008702
NM_001130823.3(DNMT1):c.*18C>A rs778467461
NM_001130823.3(DNMT1):c.*18C>T rs778467461
NM_001130823.3(DNMT1):c.*34A>C rs1416080045
NM_001130823.3(DNMT1):c.-34C>G rs112908248
NM_001130823.3(DNMT1):c.1009-8C>G rs766626750
NM_001130823.3(DNMT1):c.1171-7C>T rs1168540279
NM_001130823.3(DNMT1):c.1191G>A (p.Leu397=) rs1599371468
NM_001130823.3(DNMT1):c.2100G>A (p.Gln700=) rs2038347997
NM_001130823.3(DNMT1):c.3294C>G (p.Arg1098=) rs775786809
NM_001130823.3(DNMT1):c.3580C>T (p.Arg1194Trp) rs1255153711
NM_001130823.3(DNMT1):c.3948+4G>A rs774356396
NM_001130823.3(DNMT1):c.410C>T (p.Thr137Met) rs377146699
NM_001256054.3(C9orf72):c.-113C>G rs750403732
NM_001256054.3(C9orf72):c.-157G>A rs1819655845
NM_001257180.2(SLC20A2):c.*1320C>T rs963612970
NM_001257180.2(SLC20A2):c.*171G>A rs908206225
NM_001257180.2(SLC20A2):c.*538C>T rs746914329
NM_001257180.2(SLC20A2):c.*660T>C rs1211116059
NM_001257180.2(SLC20A2):c.*70C>T rs371247567
NM_001257180.2(SLC20A2):c.-181T>A rs780358007
NM_001257180.2(SLC20A2):c.1090G>A (p.Asp364Asn) rs748895007
NM_001257180.2(SLC20A2):c.1338G>C (p.Glu446Asp) rs374973821
NM_001257180.2(SLC20A2):c.1576G>T (p.Val526Leu) rs1420760497
NM_001257180.2(SLC20A2):c.553G>C (p.Val185Leu) rs188325552
NM_001257180.2(SLC20A2):c.69T>A (p.Ser23=) rs556568855
NM_001257180.2(SLC20A2):c.787G>A (p.Val263Ile) rs369823081
NM_001257180.2(SLC20A2):c.834G>A (p.Lys278=) rs778920007
NM_001257180.2(SLC20A2):c.971C>T (p.Ser324Leu) rs886041752
NM_001376.4(DYNC1H1):c.-122C>T rs566619022
NM_001376.5(DYNC1H1):c.*194C>G rs566606862
NM_001376.5(DYNC1H1):c.*70T>C rs1047475161
NM_001376.5(DYNC1H1):c.-90C>T rs1256118131
NM_001376.5(DYNC1H1):c.10320G>A (p.Leu3440=) rs886050371
NM_001376.5(DYNC1H1):c.10752T>C (p.Asn3584=) rs181445947
NM_001376.5(DYNC1H1):c.10754+11G>A rs886050372
NM_001376.5(DYNC1H1):c.10800T>C (p.Ile3600=) rs886050373
NM_001376.5(DYNC1H1):c.10843C>T (p.Leu3615=) rs886050374
NM_001376.5(DYNC1H1):c.10858A>G (p.Arg3620Gly) rs2048578052
NM_001376.5(DYNC1H1):c.11132A>G (p.Gln3711Arg) rs886050375
NM_001376.5(DYNC1H1):c.11409G>A (p.Pro3803=) rs17512783
NM_001376.5(DYNC1H1):c.1158A>G (p.Arg386=) rs567247522
NM_001376.5(DYNC1H1):c.11609G>A (p.Arg3870Gln) rs2048621150
NM_001376.5(DYNC1H1):c.11898G>A (p.Pro3966=) rs777166781
NM_001376.5(DYNC1H1):c.12354G>T (p.Pro4118=) rs143574214
NM_001376.5(DYNC1H1):c.12887T>C (p.Met4296Thr) rs886050376
NM_001376.5(DYNC1H1):c.13203C>T (p.Thr4401=) rs138022242
NM_001376.5(DYNC1H1):c.13350G>A (p.Thr4450=) rs961375016
NM_001376.5(DYNC1H1):c.13707G>C (p.Thr4569=) rs138571942
NM_001376.5(DYNC1H1):c.2462C>T (p.Ala821Val) rs1391196036
NM_001376.5(DYNC1H1):c.2922A>C (p.Pro974=) rs963837216
NM_001376.5(DYNC1H1):c.3699G>T (p.Gln1233His) rs2048072049
NM_001376.5(DYNC1H1):c.4279T>C (p.Ser1427Pro) rs2048126886
NM_001376.5(DYNC1H1):c.4647T>G (p.Gly1549=) rs1595609824
NM_001376.5(DYNC1H1):c.5049+15G>A rs975753572
NM_001376.5(DYNC1H1):c.5217C>T (p.Ile1739=) rs886050368
NM_001376.5(DYNC1H1):c.5422C>A (p.Leu1808Ile) rs879253937
NM_001376.5(DYNC1H1):c.5523G>A (p.Gln1841=) rs2048192586
NM_001376.5(DYNC1H1):c.6210C>G (p.Val2070=) rs898083162
NM_001376.5(DYNC1H1):c.6711G>A (p.Leu2237=) rs886050369
NM_001376.5(DYNC1H1):c.7014+11T>A rs748466861
NM_001376.5(DYNC1H1):c.7127A>G (p.Asn2376Ser) rs775274723
NM_001376.5(DYNC1H1):c.7442T>C (p.Met2481Thr) rs2048317566
NM_001376.5(DYNC1H1):c.8177+12C>T rs367551573
NM_001376.5(DYNC1H1):c.8178-12A>T rs538986139
NM_001376.5(DYNC1H1):c.8808T>A (p.Ile2936=) rs886050370
NM_001376.5(DYNC1H1):c.9138G>A (p.Ser3046=) rs34338935
NM_001376.5(DYNC1H1):c.9503C>T (p.Thr3168Met) rs2048487270
NM_001378452.1(ITPR1):c.*1076TTCTT[1] rs886058653
NM_001378452.1(ITPR1):c.*1169_*1170insAA rs752544427
NM_001378452.1(ITPR1):c.*1169_*1170insAAA rs752544427
NM_001378452.1(ITPR1):c.*1182_*1184A[5]CAAA[1] rs1553771554
NM_001378452.1(ITPR1):c.*1183_*1184dup rs3079679
NM_001378452.1(ITPR1):c.*1184del rs3079679
NM_001378452.1(ITPR1):c.*1266G>A rs886058655
NM_001378452.1(ITPR1):c.*13A>T rs886058644
NM_001378452.1(ITPR1):c.*312G>A rs886058646
NM_001378452.1(ITPR1):c.*356TG[1] rs113825412
NM_001378452.1(ITPR1):c.*472T>G rs2051804981
NM_001378452.1(ITPR1):c.*539_*540dup rs886058648
NM_001378452.1(ITPR1):c.*549G>T rs781519977
NM_001378452.1(ITPR1):c.*592T>G rs2051813316
NM_001378452.1(ITPR1):c.*668T>C rs886058649
NM_001378452.1(ITPR1):c.*814_*817dup rs148070806
NM_001378452.1(ITPR1):c.*879T>C rs1428879075
NM_001378452.1(ITPR1):c.*970C>A rs2051846001
NM_001378452.1(ITPR1):c.-103C>T rs750565307
NM_001378452.1(ITPR1):c.-143C>A rs886058524
NM_001378452.1(ITPR1):c.-2A>G rs369723935
NM_001378452.1(ITPR1):c.-315C>T rs572878578
NM_001378452.1(ITPR1):c.-341A>T rs565843811
NM_001378452.1(ITPR1):c.1028G>A (p.Arg343Lys) rs779003637
NM_001378452.1(ITPR1):c.1125G>A (p.Leu375=) rs2306869
NM_001378452.1(ITPR1):c.1125G>C (p.Leu375=) rs2306869
NM_001378452.1(ITPR1):c.1297G>A (p.Val433Ile) rs2093848251
NM_001378452.1(ITPR1):c.1353G>C (p.Lys451Asn) rs2093849179
NM_001378452.1(ITPR1):c.1412+6C>T rs2093850197
NM_001378452.1(ITPR1):c.1413-15G>A rs148675260
NM_001378452.1(ITPR1):c.1623C>T (p.Leu541=) rs886058612
NM_001378452.1(ITPR1):c.1697A>G (p.Asp566Gly) rs2093921786
NM_001378452.1(ITPR1):c.2204+14G>A rs529693973
NM_001378452.1(ITPR1):c.2327A>G (p.Tyr776Cys) rs961418831
NM_001378452.1(ITPR1):c.2427G>A (p.Ser809=) rs553559062
NM_001378452.1(ITPR1):c.2686T>G (p.Leu896Val) rs111670385
NM_001378452.1(ITPR1):c.2940C>G (p.Thr980=) rs886058614
NM_001378452.1(ITPR1):c.3066C>G (p.Ser1022=) rs541386070
NM_001378452.1(ITPR1):c.366+15C>T rs145989158
NM_001378452.1(ITPR1):c.3705C>G (p.Ala1235=) rs34635052
NM_001378452.1(ITPR1):c.3705C>T (p.Ala1235=) rs34635052
NM_001378452.1(ITPR1):c.3873C>T (p.Phe1291=) rs567943387
NM_001378452.1(ITPR1):c.3944A>G (p.Asn1315Ser) rs1159285250
NM_001378452.1(ITPR1):c.4225C>T (p.Leu1409=) rs2094513887
NM_001378452.1(ITPR1):c.4227G>C (p.Leu1409=) rs555819278
NM_001378452.1(ITPR1):c.4669G>T (p.Ala1557Ser) rs886058615
NM_001378452.1(ITPR1):c.48T>A (p.Ser16=) rs2082182114
NM_001378452.1(ITPR1):c.4992-7del rs546612625
NM_001378452.1(ITPR1):c.5014C>T (p.Leu1672=) rs2041390618
NM_001378452.1(ITPR1):c.508C>T (p.Arg170Ter) rs886058579
NM_001378452.1(ITPR1):c.5282G>A (p.Arg1761Gln) rs2291864
NM_001378452.1(ITPR1):c.5487C>T (p.Phe1829=) rs774018521
NM_001378452.1(ITPR1):c.5529C>G (p.Gly1843=) rs776891199
NM_001378452.1(ITPR1):c.5725+15G>A rs2045841537
NM_001378452.1(ITPR1):c.5970A>T (p.Arg1990=) rs1157485528
NM_001378452.1(ITPR1):c.6383A>T (p.Glu2128Val) rs2046693194
NM_001378452.1(ITPR1):c.6539G>A (p.Ser2180Asn) rs886058620
NM_001378452.1(ITPR1):c.7562-11C>T rs368532017
NM_001378452.1(ITPR1):c.7677T>C (p.Asp2559=) rs886058626
NM_001378452.1(ITPR1):c.7965G>A (p.Leu2655=) rs775463557
NM_001378452.1(ITPR1):c.8187T>C (p.Asp2729=) rs2050964614
NM_001378452.1(ITPR1):c.8190+13_8190+14del rs552585900
NM_001386393.1(PANK2):c.*468T>C rs541731517
NM_001386393.1(PANK2):c.*63dup rs143725982
NM_001386393.1(PANK2):c.-28C>T rs544239478
NM_001386393.1(PANK2):c.-29C>T rs573948434
NM_001386393.1(PANK2):c.1083-14_1083-13insCCCCCT rs1555789541
NM_001386393.1(PANK2):c.1102A>G (p.Lys368Glu) rs559623184
NM_001386393.1(PANK2):c.11T>C (p.Leu4Ser) rs2090073827
NM_001386393.1(PANK2):c.1354G>A (p.Ala452Thr) rs886056652
NM_001386393.1(PANK2):c.255G>A (p.Ser85=) rs375741383
NM_001386393.1(PANK2):c.255G>T (p.Ser85=) rs375741383
NM_001386393.1(PANK2):c.47G>C (p.Gly16Ala) rs3737084
NM_001386393.1(PANK2):c.717T>C (p.Ile239=) rs1742717583
NM_001909.5(CTSD):c.*133G>A rs1276388326
NM_001909.5(CTSD):c.*140G>T rs551607350
NM_001909.5(CTSD):c.*342C>T rs1050822
NM_001909.5(CTSD):c.*375A>G rs916854972
NM_001909.5(CTSD):c.*555C>A rs539003212
NM_001909.5(CTSD):c.*574C>T rs886048061
NM_001909.5(CTSD):c.*58C>T rs886048063
NM_001909.5(CTSD):c.*651C>T rs991617803
NM_001909.5(CTSD):c.*98G>A rs376087786
NM_001909.5(CTSD):c.1034A>G (p.Lys345Arg) rs1845759906
NM_001909.5(CTSD):c.1119G>C (p.Met373Ile) rs796052398
NM_001909.5(CTSD):c.111G>C (p.Ser37=) rs535140505
NM_001909.5(CTSD):c.285C>T (p.Val95=) rs1845849997
NM_001909.5(CTSD):c.315C>A (p.Val105=) rs1845849420
NM_001909.5(CTSD):c.49C>T (p.Pro17Ser) rs1845913488
NM_001909.5(CTSD):c.659A>C (p.Gln220Pro) rs886048066
NM_001909.5(CTSD):c.660G>C (p.Gln220His) rs762797920
NM_001909.5(CTSD):c.928G>A (p.Glu310Lys) rs373699222
NM_001909.5(CTSD):c.940G>A (p.Ala314Thr) rs886048065
NM_001909.5(CTSD):c.973-8C>A rs886048064
NM_001909.5(CTSD):c.999C>A (p.Ser333=) rs755867394
NM_002087.3(GRN):c.-212G>A rs886053002
NM_002087.4(GRN):c.-8+3A>C rs63751020
NM_002087.4(GRN):c.100C>G (p.Pro34Ala) rs748147151
NM_002087.4(GRN):c.1087_1088del (p.Asp363fs) rs1567887576
NM_002087.4(GRN):c.1120TCC[1] (p.Ser375del) rs754862784
NM_002087.4(GRN):c.1179+6T>C rs765761482
NM_002087.4(GRN):c.1180-8C>A rs774308165
NM_002087.4(GRN):c.1468G>A (p.Val490Met) rs886053006
NM_002087.4(GRN):c.1518C>T (p.Thr506=) rs768852944
NM_002087.4(GRN):c.1548G>T (p.Val516=) rs1044281109
NM_002087.4(GRN):c.1560G>T (p.Glu520Asp) rs1242287545
NM_002087.4(GRN):c.393C>T (p.Phe131=) rs149180605
NM_002087.4(GRN):c.99C>A (p.Asp33Glu) rs63750742
NM_002087.4(GRN):c.99C>T (p.Asp33=) rs63750742
NM_002103.5(GYS1):c.*1113_*1116del rs148396922
NM_002103.5(GYS1):c.1615G>A (p.Glu539Lys) rs561646250
NM_002103.5(GYS1):c.1749C>A (p.Ile583=) rs146698792
NM_002222.6(ITPR1):c.*1366C>A rs146958900
NM_002222.6(ITPR1):c.*1366C>T rs146958900
NM_002222.6(ITPR1):c.*1531G>A rs9817206
NM_002222.6(ITPR1):c.*1531G>T rs9817206
NM_002739.5(PRKCG):c.*39C>T rs776490487
NM_002739.5(PRKCG):c.*59dup rs144706041
NM_002739.5(PRKCG):c.1764+8C>T rs756397908
NM_002739.5(PRKCG):c.1962G>C (p.Leu654=) rs868833808
NM_002778.3(PSAP):c.-33T>C rs143987544
NM_002778.3(PSAP):c.-56A>G rs534586960
NM_002778.3(PSAP):c.-62A>G rs886047155
NM_002778.3(PSAP):c.-99T>G rs886047156
NM_002778.4(PSAP):c.*113C>T rs544214520
NM_002778.4(PSAP):c.*526G>A rs1842177081
NM_002778.4(PSAP):c.*73C>T rs541692197
NM_002778.4(PSAP):c.*859C>T rs886047149
NM_002778.4(PSAP):c.1012A>G (p.Ile338Val) rs544300820
NM_002778.4(PSAP):c.1258G>A (p.Asp420Asn) rs760621775
NM_002778.4(PSAP):c.1261C>T (p.Arg421Cys) rs529719024
NM_002778.4(PSAP):c.1278C>T (p.Asn426=) rs777227555
NM_002778.4(PSAP):c.1329G>T (p.Leu443=) rs1842249121
NM_002778.4(PSAP):c.508C>G (p.Pro170Ala) rs761637109
NM_002778.4(PSAP):c.570G>T (p.Gln190His) rs142272618
NM_002778.4(PSAP):c.911A>G (p.Lys304Arg) rs757553906
NM_003560.4(PLA2G6):c.*183_*187del rs139718702
NM_003560.4(PLA2G6):c.*350C>A rs11570770
NM_003560.4(PLA2G6):c.*548C>G rs866066890
NM_003560.4(PLA2G6):c.*565C>G rs886057497
NM_003560.4(PLA2G6):c.-130C>T rs11570597
NM_003560.4(PLA2G6):c.1778C>T (p.Pro593Leu) rs1451486649
NM_003560.4(PLA2G6):c.1904G>A (p.Arg635Gln) rs387906863
NM_003560.4(PLA2G6):c.1977C>T (p.Asn659=) rs201727354
NM_003560.4(PLA2G6):c.2030G>T (p.Arg677Leu) rs369038599
NM_003560.4(PLA2G6):c.2035-926G>A
NM_003560.4(PLA2G6):c.2035G>A (p.Gly679Ser) rs886057501
NM_003560.4(PLA2G6):c.2202+5G>A rs587784348
NM_003560.4(PLA2G6):c.2376C>A (p.His792Gln) rs751982449
NM_003560.4(PLA2G6):c.266C>A (p.Ser89Tyr) rs142715413
NM_003560.4(PLA2G6):c.776C>A (p.Ala259Asp) rs2088801961
NM_003560.4(PLA2G6):c.894+6T>G rs2088460355
NM_003560.4(PLA2G6):c.894+8G>A rs752942062
NM_003560.4(PLA2G6):c.991G>A (p.Asp331Asn) rs199935023
NM_004115.4(FGF14):c.*101_*104del rs886049937
NM_004115.4(FGF14):c.*1058_*1062dup rs577253536
NM_004115.4(FGF14):c.*1199A>G rs372768269
NM_004115.4(FGF14):c.*1251G>A rs2034988925
NM_004115.4(FGF14):c.*1387_*1390dup rs10626847
NM_004115.4(FGF14):c.*1445_*1446dup rs141506954
NM_004115.4(FGF14):c.*1609_*1612del rs747506157
NM_004115.4(FGF14):c.*1618T>A rs15608
NM_004115.4(FGF14):c.*1761G>C rs886049931
NM_004115.4(FGF14):c.*176dup rs144061152
NM_004115.4(FGF14):c.*1886_*1889dup rs559888067
NM_004115.4(FGF14):c.*1918T>C rs2034930325
NM_004115.4(FGF14):c.*1948C>T rs2034928409
NM_004115.4(FGF14):c.*369A>G rs2035058657
NM_004115.4(FGF14):c.*535G>T rs897525331
NM_004115.4(FGF14):c.*658T>G rs2035039616
NM_004115.4(FGF14):c.*699T>C rs2035036843
NM_004115.4(FGF14):c.*783C>G rs886049935
NM_004115.4(FGF14):c.*794GT[4] rs371464074
NM_004115.4(FGF14):c.*863G>C rs1211426419
NM_004115.4(FGF14):c.*919_*922dup rs768342824
NM_004115.4(FGF14):c.*971_*972dup rs34628929
NM_004115.4(FGF14):c.*972del rs34628929
NM_004115.4(FGF14):c.*972dup rs34628929
NM_004115.4(FGF14):c.468C>T (p.Ile156=) rs558694053
NM_004115.4(FGF14):c.664G>A (p.Gly222Arg) rs886049938
NM_004115.4(FGF14):c.693G>A (p.Ala231=) rs34397704
NM_004960.3(FUS):c.*1230C>G rs886051945
NM_004960.3(FUS):c.*1302T>G rs1323278196
NM_004960.3(FUS):c.*1734C>T rs886051949
NM_004960.3(FUS):c.*175C>T rs375615976
NM_004960.3(FUS):c.*2063C>G rs954792797
NM_004960.3(FUS):c.*2329G>C rs2079389885
NM_004960.3(FUS):c.*272T>C rs1175838580
NM_004960.3(FUS):c.*2815T>C rs2079395649
NM_004960.3(FUS):c.*2955A>G rs149361851
NM_004960.3(FUS):c.*3092C>T rs886051958
NM_004960.3(FUS):c.*3230A>G rs550798081
NM_004960.3(FUS):c.*3263T>G rs886051959
NM_004960.3(FUS):c.*408A>C rs553760130
NM_004960.3(FUS):c.*415A>T rs771689682
NM_004960.3(FUS):c.*805C>G rs886051942
NM_004960.3(FUS):c.*814T>C rs772679520
NM_004960.3(FUS):c.*953G>T rs2079374011
NM_004960.4(FUS):c.*132C>A rs565540429
NM_004960.4(FUS):c.-15C>G rs768477428
NM_004960.4(FUS):c.-48C>G rs199671743
NM_004960.4(FUS):c.-49G>A rs200997075
NM_004960.4(FUS):c.-49G>T rs200997075
NM_004960.4(FUS):c.-53C>T rs759668256
NM_004960.4(FUS):c.1181G>T (p.Arg394Leu) rs886051936
NM_004960.4(FUS):c.1376C>T (p.Pro459Leu) rs1131691846
NM_004960.4(FUS):c.1414C>T (p.Arg472Cys) rs914056789
NM_004960.4(FUS):c.40T>A (p.Tyr14Asn) rs2079194587
NM_004960.4(FUS):c.524-7C>T rs747200795
NM_004960.4(FUS):c.52C>T (p.Pro18Ser) rs144888138
NM_004960.4(FUS):c.824A>G (p.His275Arg) rs1405011209
NM_004960.4(FUS):c.833-9A>T rs1055720509
NM_004960.4(FUS):c.937-10C>T rs199705472
NM_006749.4(SLC20A2):c.-410C>T rs1813237071
NM_006749.5(SLC20A2):c.-265+5dup rs1554579488
NM_006749.5(SLC20A2):c.-265+8dup rs1554579481
NM_006749.5(SLC20A2):c.-288G>C rs1554579510
NM_006749.5(SLC20A2):c.-350T>G rs1813229018
NM_006796.3(AFG3L2):c.*311C>T rs79884272
NM_006796.3(AFG3L2):c.-18A>G rs886053618
NM_006796.3(AFG3L2):c.-78C>A rs1909190689
NM_006796.3(AFG3L2):c.1397C>T (p.Pro466Leu) rs375098002
NM_006796.3(AFG3L2):c.1516G>T (p.Ala506Ser) rs1908301962
NM_006796.3(AFG3L2):c.1664-5G>C rs886053615
NM_006796.3(AFG3L2):c.215-11_215-6del rs533823759
NM_006796.3(AFG3L2):c.2314C>T (p.Leu772Phe) rs117182113
NM_006796.3(AFG3L2):c.268A>G (p.Lys90Glu) rs886053616
NM_006796.3(AFG3L2):c.293-14_293-13del rs556473698
NM_006796.3(AFG3L2):c.891G>A (p.Lys297=) rs1908570292
NM_006796.3(AFG3L2):c.89C>T (p.Pro30Leu) rs886053617
NM_006946.4(SPTBN2):c.1081G>A (p.Glu361Lys)
NM_006946.4(SPTBN2):c.1351-7G>A rs116078747
NM_006946.4(SPTBN2):c.1351-7G>T rs116078747
NM_006946.4(SPTBN2):c.1827G>T (p.Pro609=) rs776570497
NM_006946.4(SPTBN2):c.207G>T (p.Ser69=) rs748341964
NM_006946.4(SPTBN2):c.2445C>T (p.Pro815=) rs766115824
NM_006946.4(SPTBN2):c.3765C>T (p.Ser1255=) rs886048551
NM_006946.4(SPTBN2):c.476G>A (p.Arg159Gln) rs886048552
NM_006946.4(SPTBN2):c.5067C>A (p.Arg1689=) rs886048549
NM_006946.4(SPTBN2):c.5871G>C (p.Glu1957Asp) rs886048547
NM_006946.4(SPTBN2):c.6220A>C (p.Lys2074Gln) rs541138596
NM_006946.4(SPTBN2):c.6431C>T (p.Thr2144Ile) rs886048546
NM_006946.4(SPTBN2):c.6674T>C (p.Leu2225Pro) rs886048545
NM_006946.4(SPTBN2):c.6735C>T (p.Asn2245=) rs750664912
NM_007126.5(VCP):c.*216G>A rs567542622
NM_007126.5(VCP):c.*788G>A rs886063887
NM_007126.5(VCP):c.-53C>T rs369830702
NM_007126.5(VCP):c.1293C>T (p.Asp431=) rs1828712869
NM_007126.5(VCP):c.130-9T>C rs1828868223
NM_007126.5(VCP):c.185A>G (p.Lys62Arg) rs886063892
NM_007126.5(VCP):c.591C>G (p.Ser197=) rs866003333
NM_007126.5(VCP):c.794T>C (p.Phe265Ser) rs1828756507
NM_007375.4(TARDBP):c.*1084A>T rs886045041
NM_007375.4(TARDBP):c.*142T>C rs1643667051
NM_007375.4(TARDBP):c.*1597_*1600del rs748047297
NM_007375.4(TARDBP):c.*159A>C rs886045037
NM_007375.4(TARDBP):c.*1633del rs886045043
NM_007375.4(TARDBP):c.*2005T>C rs886045045
NM_007375.4(TARDBP):c.*2029C>T rs886045046
NM_007375.4(TARDBP):c.*2260T>G rs1241104365
NM_007375.4(TARDBP):c.*2294_*2295insGTTTT rs3059695
NM_007375.4(TARDBP):c.*2360C>T rs886045049
NM_007375.4(TARDBP):c.*2538del rs886045050
NM_007375.4(TARDBP):c.*2829dup rs886045051
NM_007375.4(TARDBP):c.*505del rs886045038
NM_007375.4(TARDBP):c.*560A>T rs1218479013
NM_007375.4(TARDBP):c.*56C>T rs1440666601
NM_007375.4(TARDBP):c.*616G>C rs1401947753
NM_007375.4(TARDBP):c.*697G>A rs387906334
NM_007375.4(TARDBP):c.*763G>A rs1643678827
NM_007375.4(TARDBP):c.*842G>A rs886045039
NM_007375.4(TARDBP):c.*862G>T rs886045040
NM_007375.4(TARDBP):c.-12-10_-12-9del rs575825467
NM_007375.4(TARDBP):c.-42C>T rs886045033
NM_007375.4(TARDBP):c.-77G>A rs886045032
NM_007375.4(TARDBP):c.717T>C (p.Ile239=) rs1643650855
NM_014043.3(CHMP2B):c.-259C>A rs538600777
NM_014043.4(CHMP2B):c.*1008_*1011del rs886058911
NM_014043.4(CHMP2B):c.*106dup rs368297778
NM_014043.4(CHMP2B):c.*1080C>T rs963258376
NM_014043.4(CHMP2B):c.*121G>A rs1706359144
NM_014043.4(CHMP2B):c.*1376G>C rs191203869
NM_014043.4(CHMP2B):c.*1414T>C rs1575973316
NM_014043.4(CHMP2B):c.*602T>G rs886058908
NM_014043.4(CHMP2B):c.*626A>G rs971797498
NM_014043.4(CHMP2B):c.*92dup rs886058906
NM_014043.4(CHMP2B):c.*955_*960del rs886058909
NM_014043.4(CHMP2B):c.*968G>A rs886058910
NM_014043.4(CHMP2B):c.-38C>T rs886058905
NM_014043.4(CHMP2B):c.202C>T (p.Leu68=) rs1706200423
NM_014043.4(CHMP2B):c.531+8C>T rs374796686
NM_015215.4(CAMTA1):c.4187A>C (p.Asn1396Thr)
NM_015215.4(CAMTA1):c.4223C>T (p.Thr1408Ile) rs1435279555
NM_017882.3(CLN6):c.*224T>C rs886051442
NM_017882.3(CLN6):c.*264T>C rs886051440
NM_017882.3(CLN6):c.*345C>T rs2093191394
NM_017882.3(CLN6):c.*526A>G rs886051438
NM_017882.3(CLN6):c.*887G>T rs886051436
NM_017882.3(CLN6):c.*88G>A rs886051446
NM_017882.3(CLN6):c.-108G>C rs865972073
NM_017882.3(CLN6):c.124C>T (p.Pro42Ser) rs1003606439
NM_017882.3(CLN6):c.213C>G (p.Leu71=) rs146980624
NM_017882.3(CLN6):c.469C>A (p.Leu157Ile) rs2093205792
NM_017882.3(CLN6):c.487-12T>A rs571940397
NM_017882.3(CLN6):c.487-3C>G rs1468531022
NM_017882.3(CLN6):c.64G>T (p.Ala22Ser) rs527373013
NM_017882.3(CLN6):c.66C>T (p.Ala22=) rs796052349
NM_017882.3(CLN6):c.719C>T (p.Ala240Val) rs2093194119
NM_017882.3(CLN6):c.83+11G>A rs2093262385
NM_018325.5(C9orf72):c.*1064A>G rs184151041
NM_018325.5(C9orf72):c.*1136T>C rs375528640
NM_018325.5(C9orf72):c.*144C>T rs1820806932
NM_018325.5(C9orf72):c.*1626G>A rs1820774330
NM_018325.5(C9orf72):c.*356T>G rs886063838
NM_018325.5(C9orf72):c.*577G>C rs886063836
NM_018325.5(C9orf72):c.*787G>A rs148832592
NM_018325.5(C9orf72):c.1051G>T (p.Asp351Tyr) rs1307772456
NM_018325.5(C9orf72):c.1426G>C (p.Asp476His) rs767272170
NM_018325.5(C9orf72):c.218G>A (p.Arg73Gln) rs1819480368
NM_018325.5(C9orf72):c.329A>G (p.Tyr110Cys) rs1375695528
NM_018325.5(C9orf72):c.771A>G (p.Pro257=) rs1169081203
NM_018325.5(C9orf72):c.994A>T (p.Met332Leu) rs146043466
NM_020702.5(MYORG):c.1086CTTCGA[1] (p.363FD[1]) rs1398218251
NM_020702.5(MYORG):c.701_702del (p.Ala234fs)
NM_022089.4(ATP13A2):c.*158T>C rs185521359
NM_022089.4(ATP13A2):c.*251A>G rs535432261
NM_022089.4(ATP13A2):c.*9C>A rs773484997
NM_022089.4(ATP13A2):c.-171G>C rs1350517492
NM_022089.4(ATP13A2):c.1040-6C>T rs886045582
NM_022089.4(ATP13A2):c.1163G>A (p.Gly388Glu) rs769588580
NM_022089.4(ATP13A2):c.1208C>A (p.Ala403Glu) rs373349384
NM_022089.4(ATP13A2):c.1387G>C (p.Asp463His) rs776550207
NM_022089.4(ATP13A2):c.1777_1778del (p.Ala594fs) rs1557683241
NM_022089.4(ATP13A2):c.1947C>G (p.Pro649=) rs369722835
NM_022089.4(ATP13A2):c.2517G>C (p.Lys839Asn) rs2076866081
NM_022089.4(ATP13A2):c.2563G>A (p.Ala855Thr) rs886045579
NM_022089.4(ATP13A2):c.2808C>T (p.Tyr936=) rs886045578
NM_022089.4(ATP13A2):c.2927T>G (p.Val976Gly) rs776148733
NM_022089.4(ATP13A2):c.2983del (p.Ala995fs) rs1414662479
NM_022089.4(ATP13A2):c.3111C>T (p.Ala1037=) rs538236343
NM_022089.4(ATP13A2):c.3258G>C (p.Ala1086=) rs377253172
NM_022089.4(ATP13A2):c.3301C>T (p.Leu1101Phe) rs886045577
NM_022089.4(ATP13A2):c.840G>T (p.Lys280Asn) rs1326739914
NM_022124.6(CDH23):c.*588del rs148667421
NM_022124.6(CDH23):c.9510+19_9510+25del rs149704197
NM_022124.6(CDH23):c.9739-12G>A rs200638595
NM_024411.4(PDYN):c.-402C>G rs775379753
NM_024411.5(PDYN):c.*1065C>T rs953182789
NM_024411.5(PDYN):c.*1274T>G rs886056529
NM_024411.5(PDYN):c.*1394C>A rs112661575
NM_024411.5(PDYN):c.*1394C>T rs112661575
NM_024411.5(PDYN):c.*389A>T rs1987615154
NM_024411.5(PDYN):c.*449_*459delinsTAA rs886056533
NM_024411.5(PDYN):c.*556C>A rs73571349
NM_024411.5(PDYN):c.*65C>G rs1987645885
NM_024411.5(PDYN):c.*670A>T rs879202411
NM_024411.5(PDYN):c.*700_*703del rs572674195
NM_024411.5(PDYN):c.*760G>C rs767631485
NM_024411.5(PDYN):c.*771T>C rs910079
NM_024411.5(PDYN):c.-42A>T rs886056536
NM_024411.5(PDYN):c.-43G>A rs947395569
NM_024411.5(PDYN):c.244T>C (p.Leu82=) rs987477947
NM_024411.5(PDYN):c.405C>T (p.Asp135=) rs147181436
NM_024411.5(PDYN):c.496del (p.Glu166fs) rs768036104
NM_024411.5(PDYN):c.582C>T (p.Asp194=) rs769461186
NM_024411.5(PDYN):c.691C>T (p.Arg231Trp) rs201204862
NM_024411.5(PDYN):c.86G>T (p.Cys29Phe) rs1987927570
NM_025000.4(DCAF17):c.*1165C>G rs886055109
NM_025000.4(DCAF17):c.*1258dup rs745661005
NM_025000.4(DCAF17):c.*1485AG[1] rs886055111
NM_025000.4(DCAF17):c.*1565del rs560178345
NM_025000.4(DCAF17):c.*2066A>G rs886055113
NM_025000.4(DCAF17):c.*2318C>T rs1696824875
NM_025000.4(DCAF17):c.*2623T>G rs886055115
NM_025000.4(DCAF17):c.*2775G>T rs16859404
NM_025000.4(DCAF17):c.*2965TTC[3] rs886055117
NM_025000.4(DCAF17):c.*3008TTGT[1] rs374810983
NM_025000.4(DCAF17):c.*3107A>G rs1696862024
NM_025000.4(DCAF17):c.*3170A>G rs865846361
NM_025000.4(DCAF17):c.*3453A>G rs747674263
NM_025000.4(DCAF17):c.*3811A>G rs1696888826
NM_025000.4(DCAF17):c.*3835A>G rs886055119
NM_025000.4(DCAF17):c.*808T>A rs886055108
NM_025000.4(DCAF17):c.*864A>G rs1696764439
NM_025000.4(DCAF17):c.-198T>C rs886055104
NM_025000.4(DCAF17):c.-222G>A rs1693603245
NM_025000.4(DCAF17):c.-243C>G rs886055102
NM_025000.4(DCAF17):c.1266+4T>C rs1696579172
NM_025000.4(DCAF17):c.133A>G (p.Thr45Ala) rs758636084
NM_025000.4(DCAF17):c.181T>C (p.Tyr61His) rs1321628221
NM_025000.4(DCAF17):c.959G>T (p.Cys320Phe) rs1696082466
NM_025000.4(DCAF17):c.95A>C (p.Asn32Thr) rs748586810
NM_025000.4(DCAF17):c.986A>C (p.Lys329Thr) rs1363225398
NM_025219.3(DNAJC5):c.*135C>T rs886056937
NM_025219.3(DNAJC5):c.*1391G>C rs886056944
NM_025219.3(DNAJC5):c.*177T>C rs2053674149
NM_025219.3(DNAJC5):c.*1836C>T rs752208413
NM_025219.3(DNAJC5):c.*1895C>G rs886056945
NM_025219.3(DNAJC5):c.*2191G>C rs550048168
NM_025219.3(DNAJC5):c.*2385G>T rs2053695885
NM_025219.3(DNAJC5):c.*243G>A rs886056938
NM_025219.3(DNAJC5):c.*2482G>C rs1300822328
NM_025219.3(DNAJC5):c.*2723A>G rs76769576
NM_025219.3(DNAJC5):c.*273C>G rs886056939
NM_025219.3(DNAJC5):c.*2849A>G rs978741488
NM_025219.3(DNAJC5):c.*2913G>A rs539536316
NM_025219.3(DNAJC5):c.*2980C>A rs1600892537
NM_025219.3(DNAJC5):c.*2983C>T rs1251113332
NM_025219.3(DNAJC5):c.*298C>T rs915298444
NM_025219.3(DNAJC5):c.*3009G>A rs886056948
NM_025219.3(DNAJC5):c.*3184G>A rs185738914
NM_025219.3(DNAJC5):c.*3215C>G rs999925805
NM_025219.3(DNAJC5):c.*3224C>T rs2053704300
NM_025219.3(DNAJC5):c.*3239C>T rs886056950
NM_025219.3(DNAJC5):c.*3252G>A rs545688443
NM_025219.3(DNAJC5):c.*3608G>C rs2053707906
NM_025219.3(DNAJC5):c.*4070C>G rs3810500
NM_025219.3(DNAJC5):c.*4070C>T rs3810500
NM_025219.3(DNAJC5):c.*412C>T rs886056941
NM_025219.3(DNAJC5):c.*4253C>G rs886056955
NM_025219.3(DNAJC5):c.*458G>A rs941396645
NM_025219.3(DNAJC5):c.*486G>A rs2053677825
NM_025219.3(DNAJC5):c.*66C>T rs2053672735
NM_025219.3(DNAJC5):c.*727C>A rs75130625
NM_025219.3(DNAJC5):c.*727C>G rs75130625
NM_025219.3(DNAJC5):c.*853C>A rs6011230
NM_025219.3(DNAJC5):c.*853C>G rs6011230
NM_025219.3(DNAJC5):c.*853C>T rs6011230
NM_025219.3(DNAJC5):c.*948G>A rs867566418
NM_025219.3(DNAJC5):c.-12+15G>T rs2053366716
NM_025219.3(DNAJC5):c.-194C>T rs886056925
NM_025219.3(DNAJC5):c.-89C>G rs886056933
NM_025219.3(DNAJC5):c.107+8G>T rs2053633876
NM_025219.3(DNAJC5):c.153G>T (p.Pro51=) rs151265913
NM_025219.3(DNAJC5):c.438G>A (p.Thr146=) rs746222594
NM_025219.3(DNAJC5):c.504C>T (p.Asp168=) rs886056935
NM_031448.6(C19orf12):c.*1021dup rs758272383
NM_031448.6(C19orf12):c.*1111A>G rs767110273
NM_031448.6(C19orf12):c.*1203A>G rs1972082905
NM_031448.6(C19orf12):c.*1361C>T rs189239161
NM_031448.6(C19orf12):c.*1362G>A rs113343769
NM_031448.6(C19orf12):c.*1362G>T rs113343769
NM_031448.6(C19orf12):c.*136C>T rs886054321
NM_031448.6(C19orf12):c.*137G>A rs746454120
NM_031448.6(C19orf12):c.*1944A>G rs1972043921
NM_031448.6(C19orf12):c.*2207C>T rs1486513005
NM_031448.6(C19orf12):c.*2373G>T rs76746960
NM_031448.6(C19orf12):c.*2732G>A rs761466058
NM_031448.6(C19orf12):c.*2790dup rs35730141
NM_031448.6(C19orf12):c.*308C>T rs886054320
NM_031448.6(C19orf12):c.*3227_*3229del rs60814860
NM_031448.6(C19orf12):c.*3402dup rs139713991
NM_031448.6(C19orf12):c.*3518C>A rs62105838
NM_031448.6(C19orf12):c.*3518C>T rs62105838
NM_031448.6(C19orf12):c.*3672C>T rs886054310
NM_031448.6(C19orf12):c.*437C>G rs1048104
NM_031448.6(C19orf12):c.*437C>T rs1048104
NM_031448.6(C19orf12):c.*466G>A rs886054319
NM_031448.6(C19orf12):c.-10-12T>A rs886054323
NM_031448.6(C19orf12):c.-11+131C>T rs886054325
NM_031448.6(C19orf12):c.113T>C (p.Met38Thr) rs1972486898
NM_031448.6(C19orf12):c.241C>A (p.Pro81Thr) rs756687848
NM_031448.6(C19orf12):c.371T>C (p.Met124Thr) rs1972169092
NM_031448.6(C19orf12):c.80A>T (p.His27Leu) rs886054322
NM_032383.5(HPS3):c.2887+19dup rs397710976
NM_033305.2(VPS13A):c.-183G>A rs12349389
NM_033305.2(VPS13A):c.-183G>C rs12349389
NM_033305.2(VPS13A):c.-232G>C rs545092496
NM_033305.2(VPS13A):c.-264G>C rs542679691
NM_033305.3(VPS13A):c.*106T>G rs1835160786
NM_033305.3(VPS13A):c.*1133A>C rs182044001
NM_033305.3(VPS13A):c.*1248_*1251dup rs1057515668
NM_033305.3(VPS13A):c.*133CAAA[1] rs914078686
NM_033305.3(VPS13A):c.*274AGA[1] rs147672353
NM_033305.3(VPS13A):c.*409A>G rs975807327
NM_033305.3(VPS13A):c.*694C>A rs115104076
NM_033305.3(VPS13A):c.*774_*776del rs549219168
NM_033305.3(VPS13A):c.*81A>G rs1057515661
NM_033305.3(VPS13A):c.*990T>A rs1203318328
NM_033305.3(VPS13A):c.-16A>T rs372360076
NM_033305.3(VPS13A):c.1155T>C (p.Ser385=) rs774931205
NM_033305.3(VPS13A):c.1303T>C (p.Trp435Arg) rs550188251
NM_033305.3(VPS13A):c.1596-10_1596-8del rs748907586
NM_033305.3(VPS13A):c.159A>G (p.Val53=) rs1057515645
NM_033305.3(VPS13A):c.1744T>C (p.Cys582Arg) rs1057515651
NM_033305.3(VPS13A):c.1792G>C (p.Val598Leu) rs759600403
NM_033305.3(VPS13A):c.1900+9C>T rs773690202
NM_033305.3(VPS13A):c.2136A>C (p.Gln712His) rs1389344705
NM_033305.3(VPS13A):c.2175T>G (p.Asp725Glu) rs1057515652
NM_033305.3(VPS13A):c.2475A>G (p.Ile825Met) rs1826457641
NM_033305.3(VPS13A):c.2723T>A (p.Ile908Asn) rs1826653395
NM_033305.3(VPS13A):c.2783C>A (p.Ala928Asp) rs757651034
NM_033305.3(VPS13A):c.283+20del rs199782752
NM_033305.3(VPS13A):c.2841A>G (p.Pro947=) rs1826936558
NM_033305.3(VPS13A):c.2869A>G (p.Thr957Ala) rs1248091059
NM_033305.3(VPS13A):c.295_297del (p.Asp99del) rs759258746
NM_033305.3(VPS13A):c.3340-5_3340-3del rs746510956
NM_033305.3(VPS13A):c.3961-6del rs3216012
NM_033305.3(VPS13A):c.3961-6dup rs3216012
NM_033305.3(VPS13A):c.4190G>A (p.Ser1397Asn) rs1392223813
NM_033305.3(VPS13A):c.4223A>G (p.Tyr1408Cys) rs1829245513
NM_033305.3(VPS13A):c.496-9C>T rs370541609
NM_033305.3(VPS13A):c.5156G>T (p.Gly1719Val) rs1829532129
NM_033305.3(VPS13A):c.5481A>G (p.Pro1827=) rs1829726014
NM_033305.3(VPS13A):c.5532A>C (p.Thr1844=) rs370144264
NM_033305.3(VPS13A):c.6039C>A (p.Thr2013=) rs528628591
NM_033305.3(VPS13A):c.649A>G (p.Asn217Asp) rs1826073644
NM_033305.3(VPS13A):c.6591T>C (p.Ala2197=) rs1057515657
NM_033305.3(VPS13A):c.667T>G (p.Phe223Val) rs1287394997
NM_033305.3(VPS13A):c.6880-6dup rs140476942
NM_033305.3(VPS13A):c.7044T>A (p.Pro2348=) rs143259810
NM_033305.3(VPS13A):c.7155+14dup rs747383490
NM_033305.3(VPS13A):c.7231G>T (p.Ala2411Ser) rs760875004
NM_033305.3(VPS13A):c.7237A>G (p.Thr2413Ala) rs1057515659
NM_033305.3(VPS13A):c.7953G>C (p.Gln2651His) rs774310423
NM_033305.3(VPS13A):c.8472-11G>T rs1281741862
NM_033305.3(VPS13A):c.9193A>G (p.Met3065Val) rs1057515660
NM_033305.3(VPS13A):c.9326G>A (p.Trp3109Ter) rs773932109
NM_033305.3(VPS13A):c.989+28del rs751974264
NM_153638.4(PANK2):c.272C>T (p.Pro91Leu) rs757651957
NM_153638.4(PANK2):c.283C>A (p.Leu95Ile) rs558404718
NM_153638.4(PANK2):c.54A>G (p.Ser18=) rs886056650
NM_173500.4(TTBK2):c.*507T>G rs886051162
NM_173500.4(TTBK2):c.*548C>T rs1782579071
NM_173500.4(TTBK2):c.*604T>C rs886051161
NM_173500.4(TTBK2):c.*690dup rs886051160
NM_173500.4(TTBK2):c.*953A>G rs934539405
NM_173500.4(TTBK2):c.-125C>G rs1428784964
NM_173500.4(TTBK2):c.-281GCC[5] rs377202784
NM_173500.4(TTBK2):c.1237G>T (p.Gly413Cys) rs1889967626
NM_173500.4(TTBK2):c.1499G>C (p.Arg500Pro) rs56039839
NM_173500.4(TTBK2):c.1499G>T (p.Arg500Leu) rs56039839
NM_173500.4(TTBK2):c.2928A>T (p.Pro976=) rs1567000293
NM_173500.4(TTBK2):c.2980G>T (p.Asp994Tyr) rs377620628
NM_173500.4(TTBK2):c.3432A>G (p.Pro1144=) rs2061791617
NM_173500.4(TTBK2):c.571C>A (p.Arg191Ser) rs563297091
NM_173500.4(TTBK2):c.700C>A (p.Gln234Lys) rs933067569
NM_198994.3(TGM6):c.-36T>C rs371018532
NM_198994.3(TGM6):c.-5T>A rs886056550
NM_198994.3(TGM6):c.1198A>G (p.Ile400Val) rs552530897
NM_198994.3(TGM6):c.1416G>C (p.Trp472Cys) rs267605859
NM_198994.3(TGM6):c.1653C>T (p.His551=) rs755072071
NM_198994.3(TGM6):c.1678+11G>T rs376838053
NM_198994.3(TGM6):c.1678+12C>A rs1171960882
NM_198994.3(TGM6):c.1953_1955dup (p.Gln652dup) rs557817405
NM_198994.3(TGM6):c.2065C>T (p.Pro689Ser) rs76002756
NM_198994.3(TGM6):c.303C>T (p.Leu101=) rs757250219
NM_198994.3(TGM6):c.913G>T (p.Asp305Tyr) rs748573955
NM_198994.3(TGM6):c.95T>G (p.Val32Gly) rs886056551

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