NM_000036.3(AMPD1):c.34C>T (p.Gln12Ter)
|
rs17602729
|
0.08701
|
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp)
|
rs1050829
|
0.08672
|
NM_001128228.3(TPRN):c.206G>A (p.Arg69Gln)
|
rs548415902
|
0.00676
|
NM_178012.5(TUBB2B):c.703G>A (p.Gly235Arg)
|
rs587784500
|
0.00507
|
NM_001128228.3(TPRN):c.533C>T (p.Ala178Val)
|
rs971592946
|
0.00433
|
NM_000443.4(ABCB4):c.2800G>A (p.Ala934Thr)
|
rs61730509
|
0.00389
|
NM_022051.3(EGLN1):c.287C>T (p.Ala96Val)
|
rs113401862
|
0.00236
|
NM_005609.4(PYGM):c.1537A>G (p.Ile513Val)
|
rs139570786
|
0.00232
|
NM_006796.3(AFG3L2):c.98A>C (p.Gln33Pro)
|
rs777868371
|
0.00211
|
NM_001164508.2(NEB):c.12770G>A (p.Arg4257His)
|
rs576918934
|
0.00147
|
NM_000540.3(RYR1):c.4711A>G (p.Ile1571Val)
|
rs146429605
|
0.00107
|
NM_001126108.2(SLC12A3):c.363G>C (p.Glu121Asp)
|
rs146632606
|
0.00102
|
NM_001039141.3(TRIOBP):c.1690A>G (p.Thr564Ala)
|
rs777175618
|
0.00097
|
NM_000787.4(DBH):c.1772A>T (p.Glu591Val)
|
rs75512464
|
0.00096
|
NM_004807.3(HS6ST1):c.1121G>A (p.Ser374Asn)
|
rs61732021
|
0.00094
|
NM_000435.3(NOTCH3):c.3691C>T (p.Arg1231Cys)
|
rs201680145
|
0.00089
|
NM_178335.3(CCDC50):c.617C>T (p.Ser206Phe)
|
rs138153104
|
0.00086
|
NM_001367624.2(ZNF469):c.11425G>A (p.Glu3809Lys)
|
rs201834513
|
0.00081
|
NM_001256715.2(DNAAF3):c.1589C>T (p.Pro530Leu)
|
rs200673226
|
0.00080
|
NM_000540.3(RYR1):c.10097G>A (p.Arg3366His)
|
rs137932199
|
0.00073
|
NM_005267.5(GJA8):c.385G>A (p.Val129Ile)
|
rs142415337
|
0.00070
|
NM_014244.5(ADAMTS2):c.1883G>A (p.Arg628His)
|
rs140621260
|
0.00066
|
NM_012268.4(PLD3):c.851A>G (p.Asn284Ser)
|
rs200274020
|
0.00062
|
NM_001367624.2(ZNF469):c.7573C>G (p.Pro2525Ala)
|
rs574478833
|
0.00061
|
NM_175914.5(HNF4A):c.1321A>G (p.Ile441Val)
|
rs147638455
|
0.00061
|
NM_000039.3(APOA1):c.562G>T (p.Ala188Ser)
|
rs140770089
|
0.00058
|
NM_001042631.3(SDHAF1):c.334C>T (p.Pro112Ser)
|
rs78119534
|
0.00057
|
NM_182914.3(SYNE2):c.8003T>G (p.Leu2668Trp)
|
rs143558316
|
0.00056
|
NM_001374828.1(ARID1B):c.535C>A (p.His179Asn)
|
rs374989034
|
0.00055
|
NM_001367624.2(ZNF469):c.697G>A (p.Asp233Asn)
|
rs538330967
|
0.00053
|
NM_001042472.3(ABHD12):c.103C>T (p.Arg35Cys)
|
rs749409983
|
0.00050
|
NM_025074.7(FRAS1):c.5725G>A (p.Val1909Ile)
|
rs182652779
|
0.00049
|
NM_000186.4(CFH):c.172T>G (p.Ser58Ala)
|
rs141336681
|
0.00047
|
NM_006506.5(RASA2):c.378A>C (p.Glu126Asp)
|
rs144759014
|
0.00045
|
NM_182914.3(SYNE2):c.7976G>A (p.Arg2659Gln)
|
rs199561218
|
0.00043
|
NM_001377299.1(NDUFS2):c.1354+5G>A
|
rs190184430
|
0.00042
|
NM_001367624.2(ZNF469):c.10762G>A (p.Gly3588Arg)
|
rs750481489
|
0.00041
|
NM_002857.4(PEX19):c.254C>T (p.Ala85Val)
|
rs11550119
|
0.00041
|
NM_016247.4(IMPG2):c.1495C>A (p.Pro499Thr)
|
rs143635399
|
0.00041
|
NM_178012.5(TUBB2B):c.602G>C (p.Cys201Ser)
|
rs201922441
|
0.00040
|
NM_002637.4(PHKA1):c.536C>T (p.Ala179Val)
|
rs199608903
|
0.00039
|
NM_144991.3(TSPEAR):c.355C>T (p.Leu119Phe)
|
rs143941725
|
0.00039
|
NM_182914.3(SYNE2):c.15857A>G (p.Tyr5286Cys)
|
rs149354607
|
0.00036
|
NM_000639.3(FASLG):c.364C>A (p.His122Asn)
|
rs140406512
|
0.00034
|
NM_002637.4(PHKA1):c.3511G>A (p.Ala1171Thr)
|
rs144813238
|
0.00034
|
NM_182914.3(SYNE2):c.5155A>G (p.Met1719Val)
|
rs189676187
|
0.00032
|
NM_022915.5(MRPL44):c.648+4C>T
|
rs369491695
|
0.00031
|
NM_182914.3(SYNE2):c.13570G>A (p.Glu4524Lys)
|
rs143646847
|
0.00031
|
NM_001128205.2(SULF1):c.2440G>A (p.Val814Met)
|
rs117639561
|
0.00030
|
NM_005994.4(TBX2):c.1606G>C (p.Gly536Arg)
|
rs760926920
|
0.00030
|
NM_014391.3(ANKRD1):c.368C>T (p.Thr123Met)
|
rs145387010
|
0.00030
|
NM_001022.4(RPS19):c.68A>G (p.Lys23Arg)
|
rs143477104
|
0.00029
|
NM_001080414.4(CCDC88C):c.322G>A (p.Gly108Ser)
|
rs61745604
|
0.00029
|
NM_001358921.2(COQ2):c.136C>T (p.Pro46Ser)
|
rs767013819
|
0.00029
|
NM_173500.4(TTBK2):c.1949C>T (p.Ala650Val)
|
rs369045579
|
0.00028
|
NM_182914.3(SYNE2):c.1243G>T (p.Asp415Tyr)
|
rs200836164
|
0.00027
|
NM_000043.6(FAS):c.578A>G (p.Lys193Arg)
|
rs150489856
|
0.00026
|
NM_000334.4(SCN4A):c.4048G>A (p.Val1350Met)
|
rs200274258
|
0.00026
|
NM_000639.3(FASLG):c.360G>C (p.Gln120His)
|
rs372615226
|
0.00026
|
NM_002693.3(POLG):c.328C>T (p.His110Tyr)
|
rs139599587
|
0.00026
|
NM_002834.5(PTPN11):c.333-3T>C
|
rs146749153
|
0.00026
|
NM_003978.5(PSTPIP1):c.1208G>A (p.Gly403Glu)
|
rs201572812
|
0.00026
|
NM_144670.6(A2ML1):c.814C>T (p.Arg272Trp)
|
rs201215628
|
0.00026
|
NM_182914.3(SYNE2):c.10218G>T (p.Leu3406Phe)
|
rs201421128
|
0.00026
|
NM_001122681.2(SH3BP2):c.585G>A (p.Glu195=)
|
rs200156713
|
0.00025
|
NM_001282531.3(ADNP):c.3236A>G (p.Asn1079Ser)
|
rs147399432
|
0.00025
|
NM_003571.4(BFSP2):c.1115C>T (p.Ala372Val)
|
rs139944598
|
0.00025
|
NM_004431.5(EPHA2):c.1984G>A (p.Gly662Ser)
|
rs144342633
|
0.00025
|
NM_000545.8(HNF1A):c.586A>G (p.Thr196Ala)
|
rs139712739
|
0.00024
|
NM_001122681.2(SH3BP2):c.1243C>T (p.Arg415Ter)
|
rs141262371
|
0.00024
|
NM_001130823.3(DNMT1):c.406C>T (p.Arg136Cys)
|
rs138841970
|
0.00024
|
NM_006308.3(HSPB3):c.271G>A (p.Glu91Lys)
|
rs147724326
|
0.00023
|
NM_000209.4(PDX1):c.418G>A (p.Ala140Thr)
|
rs143517122
|
0.00022
|
NM_007078.3(LDB3):c.1049C>T (p.Thr350Ile)
|
rs200796750
|
0.00022
|
NM_182914.3(SYNE2):c.7708G>A (p.Glu2570Lys)
|
rs376507352
|
0.00022
|
NM_201596.3(CACNB2):c.380C>T (p.Ala127Val)
|
rs200367454
|
0.00022
|
NM_000334.4(SCN4A):c.2704G>A (p.Gly902Ser)
|
rs200517944
|
0.00021
|
NM_001039876.3(SYNE4):c.962G>A (p.Arg321Gln)
|
rs150043310
|
0.00021
|
NM_001142800.2(EYS):c.4991C>T (p.Thr1664Ile)
|
rs561830314
|
0.00021
|
NM_005996.4(TBX3):c.700A>G (p.Ile234Val)
|
rs117465019
|
0.00021
|
NM_012120.3(CD2AP):c.682C>T (p.Arg228Trp)
|
rs150851309
|
0.00021
|
NM_024642.5(GALNT12):c.303C>G (p.His101Gln)
|
rs201926457
|
0.00021
|
NM_198994.3(TGM6):c.304G>A (p.Ala102Thr)
|
rs150088385
|
0.00021
|
NM_001261826.3(AP3D1):c.2254A>G (p.Lys752Glu)
|
rs201042393
|
0.00019
|
NM_144687.4(NLRP12):c.1022C>T (p.Thr341Ile)
|
rs200996095
|
0.00019
|
NM_182914.3(SYNE2):c.2477A>G (p.Asn826Ser)
|
rs372150492
|
0.00019
|
NM_022051.3(EGLN1):c.558G>C (p.Lys186Asn)
|
rs201365992
|
0.00018
|
NM_182914.3(SYNE2):c.19034G>A (p.Arg6345Gln)
|
rs141882853
|
0.00018
|
NM_018834.6(MATR3):c.1132G>A (p.Ala378Thr)
|
rs201075828
|
0.00017
|
NM_182914.3(SYNE2):c.14139+5G>A
|
rs374778697
|
0.00017
|
NM_000527.5(LDLR):c.1816G>T (p.Ala606Ser)
|
rs72658865
|
0.00016
|
NM_001122681.2(SH3BP2):c.472C>T (p.Arg158Trp)
|
rs200463050
|
0.00016
|
NM_002386.4(MC1R):c.917G>A (p.Arg306His)
|
rs368507952
|
0.00016
|
NM_006563.5(KLF1):c.259C>G (p.Pro87Ala)
|
rs752204035
|
0.00016
|
NM_017565.4(FAM20A):c.1175G>A (p.Arg392Gln)
|
rs376802484
|
0.00016
|
NM_182914.3(SYNE2):c.7762G>A (p.Val2588Met)
|
rs373690979
|
0.00016
|
NM_001371904.1(APOA5):c.434A>G (p.Gln145Arg)
|
rs368739905
|
0.00015
|
NM_003919.3(SGCE):c.391A>G (p.Ile131Val)
|
rs370609227
|
0.00015
|
NM_014585.6(SLC40A1):c.1570G>A (p.Val524Ile)
|
rs142456282
|
0.00015
|
NM_018834.6(MATR3):c.2504A>G (p.Asn835Ser)
|
rs201165929
|
0.00015
|
NM_182914.3(SYNE2):c.353A>T (p.Asp118Val)
|
rs199860789
|
0.00015
|
NM_000243.3(MEFV):c.331G>A (p.Gly111Arg)
|
rs112739451
|
0.00014
|
NM_001122681.2(SH3BP2):c.1123G>A (p.Gly375Arg)
|
rs375094936
|
0.00014
|
NM_001122681.2(SH3BP2):c.1655G>A (p.Arg552Gln)
|
rs374608155
|
0.00014
|
NM_001927.4(DES):c.893C>T (p.Ser298Leu)
|
rs62636491
|
0.00014
|
NM_002693.3(POLG):c.3436C>T (p.Arg1146Cys)
|
rs2307440
|
0.00014
|
NM_004064.5(CDKN1B):c.482C>G (p.Ser161Cys)
|
rs373917399
|
0.00014
|
NM_006506.5(RASA2):c.38C>T (p.Ser13Phe)
|
rs376313232
|
0.00014
|
NM_013447.4(ADGRE2):c.1492del (p.Thr498fs)
|
rs771415140
|
0.00014
|
NM_013447.4(ADGRE2):c.355G>C (p.Asp119His)
|
rs751263352
|
0.00014
|
NM_015215.4(CAMTA1):c.2302T>C (p.Ser768Pro)
|
rs201459076
|
0.00014
|
NM_019066.5(MAGEL2):c.539T>C (p.Val180Ala)
|
rs58729661
|
0.00014
|
NM_182914.3(SYNE2):c.8911C>G (p.Gln2971Glu)
|
rs200909650
|
0.00014
|
NM_000260.4(MYO7A):c.3469A>G (p.Ile1157Val)
|
rs397516300
|
0.00013
|
NM_001085049.3(MRAS):c.488A>G (p.Asn163Ser)
|
rs536326964
|
0.00013
|
NM_001130823.3(DNMT1):c.382C>A (p.Pro128Thr)
|
rs146601335
|
0.00013
|
NM_024675.4(PALB2):c.3257G>A (p.Arg1086Gln)
|
rs146377793
|
0.00013
|
NM_033163.5(FGF8):c.686C>T (p.Thr229Met)
|
rs137852664
|
0.00013
|
NM_182914.3(SYNE2):c.20524G>C (p.Gly6842Arg)
|
rs201538331
|
0.00013
|
NM_001317778.2(SFTPC):c.445G>C (p.Ala149Pro)
|
rs202145169
|
0.00012
|
NM_017563.5(IL17RD):c.572C>T (p.Pro191Leu)
|
rs200088377
|
0.00012
|
NM_144687.4(NLRP12):c.2756G>A (p.Arg919Gln)
|
rs201596732
|
0.00012
|
NM_182914.3(SYNE2):c.14518T>C (p.Trp4840Arg)
|
rs148323208
|
0.00012
|
NM_182914.3(SYNE2):c.17539G>A (p.Glu5847Lys)
|
rs201427580
|
0.00012
|
NM_182914.3(SYNE2):c.18595C>G (p.Gln6199Glu)
|
rs375497206
|
0.00012
|
NM_000090.4(COL3A1):c.226A>G (p.Asn76Asp)
|
rs142045411
|
0.00011
|
NM_000334.4(SCN4A):c.2563A>G (p.Met855Val)
|
rs372019457
|
0.00011
|
NM_004431.5(EPHA2):c.1046C>T (p.Thr349Met)
|
rs200490325
|
0.00011
|
NM_018136.5(ASPM):c.9085-3T>C
|
rs201188381
|
0.00011
|
NM_182914.3(SYNE2):c.20462G>A (p.Arg6821Gln)
|
rs148791608
|
0.00011
|
NM_001317778.2(SFTPC):c.176A>G (p.His59Arg)
|
rs201567623
|
0.00010
|
NM_003722.5(TP63):c.1877T>G (p.Val626Gly)
|
rs372318389
|
0.00010
|
NM_004655.4(AXIN2):c.1376G>A (p.Arg459His)
|
rs368525111
|
0.00010
|
NM_017841.4(SDHAF2):c.7G>T (p.Val3Leu)
|
rs149277592
|
0.00010
|
NM_144687.4(NLRP12):c.2960G>A (p.Cys987Tyr)
|
rs369502542
|
0.00010
|
NM_182914.3(SYNE2):c.12379G>A (p.Asp4127Asn)
|
rs145874555
|
0.00010
|
NM_000268.4(NF2):c.1540A>G (p.Met514Val)
|
rs201527155
|
0.00009
|
NM_000335.5(SCN5A):c.934+4C>T
|
rs182050752
|
0.00009
|
NM_001037.5(SCN1B):c.448+189C>A
|
rs766373298
|
0.00009
|
NM_001382273.1(TNK2):c.1777G>A (p.Val593Met)
|
rs375205272
|
0.00009
|
NM_001734.5(C1S):c.1079G>T (p.Gly360Val)
|
rs143619931
|
0.00009
|
NM_024675.4(PALB2):c.3251C>T (p.Ser1084Leu)
|
rs62625271
|
0.00009
|
NM_144687.4(NLRP12):c.2575C>T (p.Arg859Trp)
|
rs573629753
|
0.00009
|
NM_182914.3(SYNE2):c.3830G>A (p.Arg1277His)
|
rs367549881
|
0.00009
|
NM_182914.3(SYNE2):c.6664C>G (p.Pro2222Ala)
|
rs201838350
|
0.00009
|
NM_000257.4(MYH7):c.1407T>C (p.Asp469=)
|
rs112172952
|
0.00008
|
NM_000465.4(BARD1):c.1409A>G (p.Asn470Ser)
|
rs587781976
|
0.00008
|
NM_000527.5(LDLR):c.1085A>C (p.Asp362Ala)
|
rs138315511
|
0.00008
|
NM_001008537.3(NEXMIF):c.685G>T (p.Asp229Tyr)
|
rs139459124
|
0.00008
|
NM_024675.4(PALB2):c.1042C>A (p.Gln348Lys)
|
rs375699023
|
0.00008
|
NM_000891.3(KCNJ2):c.277G>A (p.Val93Ile)
|
rs147750704
|
0.00007
|
NM_001303.4(COX10):c.1193G>A (p.Arg398His)
|
rs200942884
|
0.00007
|
NM_001374675.1(HSF4):c.259G>A (p.Glu87Lys)
|
rs367654370
|
0.00007
|
NM_003919.3(SGCE):c.1196C>T (p.Pro399Leu)
|
rs17851923
|
0.00007
|
NM_013447.4(ADGRE2):c.2266G>T (p.Ala756Ser)
|
rs373190699
|
0.00007
|
NM_014244.5(ADAMTS2):c.260G>T (p.Arg87Leu)
|
rs150047440
|
0.00007
|
NM_130839.5(UBE3A):c.2096A>C (p.Lys699Thr)
|
rs202161423
|
0.00007
|
NM_198525.3(KIF7):c.1177G>T (p.Gly393Cys)
|
rs553968087
|
0.00007
|
NM_207122.2(EXT2):c.605C>T (p.Ala202Val)
|
rs771803942
|
0.00007
|
NM_000186.4(CFH):c.1418C>T (p.Ala473Val)
|
rs371053403
|
0.00006
|
NM_000257.4(MYH7):c.4283T>C (p.Leu1428Ser)
|
rs727503244
|
0.00006
|
NM_000435.3(NOTCH3):c.487C>T (p.Arg163Trp)
|
rs367707092
|
0.00006
|
NM_000527.5(LDLR):c.1080T>G (p.Asp360Glu)
|
rs749322464
|
0.00006
|
NM_000527.5(LDLR):c.2282C>T (p.Thr761Met)
|
rs138477254
|
0.00006
|
NM_001367624.2(ZNF469):c.4910G>A (p.Arg1637Gln)
|
rs273585621
|
0.00006
|
NM_004431.5(EPHA2):c.1720G>A (p.Val574Ile)
|
rs201325716
|
0.00006
|
NM_005529.7(HSPG2):c.12487C>T (p.Arg4163Cys)
|
rs139743858
|
0.00006
|
NM_006767.4(LZTR1):c.2232G>A (p.Ala744=)
|
rs139261473
|
0.00006
|
NM_006946.4(SPTBN2):c.3059G>A (p.Arg1020Gln)
|
rs758312194
|
0.00006
|
NM_013447.4(ADGRE2):c.137G>A (p.Arg46His)
|
rs142343910
|
0.00006
|
NM_013447.4(ADGRE2):c.2174G>A (p.Arg725Gln)
|
rs374432034
|
0.00006
|
NM_018206.6(VPS35):c.1420C>G (p.Gln474Glu)
|
rs370401767
|
0.00006
|
NM_139076.3(ABRAXAS1):c.476+5A>C
|
rs753767582
|
0.00006
|
NM_144687.4(NLRP12):c.2183G>A (p.Arg728Gln)
|
rs373285006
|
0.00006
|
NM_182914.3(SYNE2):c.12614C>T (p.Thr4205Ile)
|
rs376207235
|
0.00006
|
NM_207122.2(EXT2):c.1249C>T (p.Arg417Trp)
|
rs540229057
|
0.00006
|
NM_000334.4(SCN4A):c.4711C>T (p.Pro1571Ser)
|
rs772552529
|
0.00005
|
NM_000527.5(LDLR):c.2579C>T (p.Ala860Val)
|
rs13306505
|
0.00005
|
NM_000824.5(GLRB):c.952G>A (p.Ala318Thr)
|
rs750803516
|
0.00005
|
NM_001360016.2(G6PD):c.337G>A (p.Asp113Asn)
|
rs5030870
|
0.00005
|
NM_001367624.2(ZNF469):c.356G>A (p.Arg119His)
|
rs759962057
|
0.00005
|
NM_001851.6(COL9A1):c.166+5G>A
|
rs544432669
|
0.00005
|
NM_002693.3(POLG):c.1850G>A (p.Arg617His)
|
rs779961986
|
0.00005
|
NM_007186.6(CEP250):c.3629C>T (p.Ala1210Val)
|
rs199592435
|
0.00005
|
NM_144670.6(A2ML1):c.1970G>A (p.Arg657His)
|
rs372629661
|
0.00005
|
NM_182914.3(SYNE2):c.2194C>A (p.Gln732Lys)
|
rs758897129
|
0.00005
|
NM_000038.6(APC):c.995G>A (p.Arg332Gln)
|
rs377665107
|
0.00004
|
NM_000186.4(CFH):c.1736T>C (p.Val579Ala)
|
rs201411537
|
0.00004
|
NM_000391.4(TPP1):c.228C>T (p.Tyr76=)
|
rs373318861
|
0.00004
|
NM_001005361.3(DNM2):c.497G>A (p.Arg166Gln)
|
rs200002469
|
0.00004
|
NM_001197104.2(KMT2A):c.7255G>A (p.Glu2419Lys)
|
rs782181274
|
0.00004
|
NM_001371928.1(AHDC1):c.3630G>T (p.Glu1210Asp)
|
rs371337420
|
0.00004
|
NM_001378452.1(ITPR1):c.1554+3C>T
|
rs781141738
|
0.00004
|
NM_001378452.1(ITPR1):c.5386G>A (p.Gly1796Ser)
|
rs760608076
|
0.00004
|
NM_001482.3(GATM):c.1244G>A (p.Arg415Gln)
|
rs374592247
|
0.00004
|
NM_002691.4(POLD1):c.2429C>T (p.Ala810Val)
|
rs765981178
|
0.00004
|
NM_003722.5(TP63):c.1465G>A (p.Ala489Thr)
|
rs138832017
|
0.00004
|
NM_006245.4(PPP2R5D):c.271C>T (p.Arg91Cys)
|
rs750265500
|
0.00004
|
NM_012418.4(FSCN2):c.1104C>T (p.Val368=)
|
rs751919154
|
0.00004
|
NM_024675.4(PALB2):c.2608G>A (p.Val870Ile)
|
rs376641234
|
0.00004
|
NM_024675.4(PALB2):c.829G>A (p.Asp277Asn)
|
rs778309339
|
0.00004
|
NM_032977.4(CASP10):c.20A>G (p.His7Arg)
|
rs200935960
|
0.00004
|
NM_182914.3(SYNE2):c.12151C>G (p.Gln4051Glu)
|
rs149546014
|
0.00004
|
NM_182914.3(SYNE2):c.19088A>G (p.Asn6363Ser)
|
rs199566869
|
0.00004
|
NM_198578.4(LRRK2):c.6929C>T (p.Thr2310Met)
|
rs200002022
|
0.00004
|
NM_000071.3(CBS):c.1316G>A (p.Arg439Gln)
|
rs756467921
|
0.00003
|
NM_000090.4(COL3A1):c.1347C>T (p.Arg449=)
|
rs755731385
|
0.00003
|
NM_000186.4(CFH):c.770G>A (p.Arg257His)
|
rs140107330
|
0.00003
|
NM_000243.3(MEFV):c.1758T>C (p.Asn586=)
|
rs202228332
|
0.00003
|
NM_000266.4(NDP):c.269G>A (p.Arg90His)
|
rs104894867
|
0.00003
|
NM_000447.3(PSEN2):c.415G>A (p.Val139Met)
|
rs202178897
|
0.00003
|
NM_000527.5(LDLR):c.2324T>C (p.Val775Ala)
|
rs780300776
|
0.00003
|
NM_000554.6(CRX):c.460A>G (p.Thr154Ala)
|
rs763651232
|
0.00003
|
NM_001005361.3(DNM2):c.890G>A (p.Arg297His)
|
rs763894364
|
0.00003
|
NM_001035.3(RYR2):c.7493C>T (p.Ala2498Val)
|
rs374191985
|
0.00003
|
NM_001197104.2(KMT2A):c.6590G>A (p.Arg2197His)
|
rs370899148
|
0.00003
|
NM_013447.4(ADGRE2):c.1876C>T (p.Leu626Phe)
|
rs145425662
|
0.00003
|
NM_015602.4(TOR1AIP1):c.554-1G>A
|
rs200993053
|
0.00003
|
NM_016247.4(IMPG2):c.2531G>A (p.Arg844Gln)
|
rs139105788
|
0.00003
|
NM_021954.4(GJA3):c.334G>C (p.Glu112Gln)
|
rs747097789
|
0.00003
|
NM_024422.6(DSC2):c.1018A>G (p.Thr340Ala)
|
rs368299411
|
0.00003
|
NM_024675.4(PALB2):c.1756G>A (p.Asp586Asn)
|
rs587781954
|
0.00003
|
NM_024675.4(PALB2):c.950C>T (p.Thr317Ile)
|
rs45548638
|
0.00003
|
NM_144997.7(FLCN):c.1580G>A (p.Arg527Gln)
|
rs777826268
|
0.00003
|
NM_182914.3(SYNE2):c.17444G>A (p.Cys5815Tyr)
|
rs143784708
|
0.00003
|
NM_182914.3(SYNE2):c.19975C>T (p.Arg6659Cys)
|
rs35763782
|
0.00003
|
NM_182914.3(SYNE2):c.20203G>A (p.Glu6735Lys)
|
rs138789938
|
0.00003
|
NM_182914.3(SYNE2):c.418C>G (p.Leu140Val)
|
rs761503203
|
0.00003
|
NM_000038.6(APC):c.4399C>T (p.Pro1467Ser)
|
rs749142480
|
0.00002
|
NM_000059.4(BRCA2):c.1409A>C (p.Glu470Ala)
|
rs750341436
|
0.00002
|
NM_000186.4(CFH):c.16A>G (p.Lys6Glu)
|
rs749875053
|
0.00002
|
NM_000186.4(CFH):c.2424A>G (p.Ile808Met)
|
rs752302466
|
0.00002
|
NM_000322.5(PRPH2):c.409G>A (p.Gly137Ser)
|
rs781256236
|
0.00002
|
NM_000527.5(LDLR):c.1510A>G (p.Lys504Glu)
|
rs730882103
|
0.00002
|
NM_001005361.3(DNM2):c.1196+710G>A
|
rs140208362
|
0.00002
|
NM_001037.5(SCN1B):c.287G>A (p.Arg96Gln)
|
rs372289648
|
0.00002
|
NM_001037.5(SCN1B):c.636G>A (p.Thr212=)
|
rs763715229
|
0.00002
|
NM_001083962.2(TCF4):c.1354G>A (p.Gly452Arg)
|
rs138570124
|
0.00002
|
NM_001122681.2(SH3BP2):c.1462C>T (p.Arg488Trp)
|
rs373554386
|
0.00002
|
NM_001142800.2(EYS):c.1999C>T (p.Arg667Cys)
|
rs765763663
|
0.00002
|
NM_002386.4(MC1R):c.869A>G (p.Asn290Ser)
|
rs373703770
|
0.00002
|
NM_003240.5(LEFTY2):c.371C>G (p.Pro124Arg)
|
rs777195213
|
0.00002
|
NM_003571.4(BFSP2):c.370G>A (p.Ala124Thr)
|
rs754811534
|
0.00002
|
NM_003919.3(SGCE):c.1025G>A (p.Arg342Gln)
|
rs764696852
|
0.00002
|
NM_003978.5(PSTPIP1):c.586G>A (p.Ala196Thr)
|
rs758911910
|
0.00002
|
NM_004104.5(FASN):c.4654C>T (p.Arg1552Cys)
|
rs762427627
|
0.00002
|
NM_006343.3(MERTK):c.1340G>A (p.Arg447Gln)
|
rs753693755
|
0.00002
|
NM_014585.6(SLC40A1):c.646A>G (p.Met216Val)
|
rs757531583
|
0.00002
|
NM_015338.6(ASXL1):c.3487G>A (p.Asp1163Asn)
|
rs371131434
|
0.00002
|
NM_018896.5(CACNA1G):c.3200G>A (p.Arg1067His)
|
rs369751310
|
0.00002
|
NM_175875.5(SIX5):c.1651G>A (p.Val551Met)
|
rs755502593
|
0.00002
|
NM_182914.3(SYNE2):c.12695C>T (p.Pro4232Leu)
|
rs139959852
|
0.00002
|
NM_182914.3(SYNE2):c.14203G>A (p.Val4735Ile)
|
rs538224852
|
0.00002
|
NM_000059.4(BRCA2):c.7759C>T (p.Leu2587Phe)
|
rs56335340
|
0.00001
|
NM_000243.3(MEFV):c.1538T>C (p.Ile513Thr)
|
rs104895199
|
0.00001
|
NM_000243.3(MEFV):c.2078T>C (p.Met693Thr)
|
rs749052818
|
0.00001
|
NM_000243.3(MEFV):c.2160C>G (p.Ile720Met)
|
rs104895102
|
0.00001
|
NM_000243.3(MEFV):c.2338C>A (p.Pro780Thr)
|
rs104895154
|
0.00001
|
NM_000257.4(MYH7):c.1301G>A (p.Arg434Lys)
|
rs786205356
|
0.00001
|
NM_000334.4(SCN4A):c.5000C>T (p.Pro1667Leu)
|
rs765721076
|
0.00001
|
NM_000492.4(CFTR):c.3771T>G (p.Phe1257Leu)
|
rs397508607
|
0.00001
|
NM_000527.5(LDLR):c.1063A>G (p.Ile355Val)
|
rs879254776
|
0.00001
|
NM_000527.5(LDLR):c.2291T>C (p.Ile764Thr)
|
rs759440817
|
0.00001
|
NM_000554.6(CRX):c.560C>T (p.Thr187Ile)
|
rs758125850
|
0.00001
|
NM_000843.4(GRM6):c.2136G>A (p.Met712Ile)
|
rs754893934
|
0.00001
|
NM_001042492.3(NF1):c.1900A>G (p.Ile634Val)
|
rs745906742
|
0.00001
|
NM_001122681.2(SH3BP2):c.166C>T (p.Arg56Cys)
|
rs758096402
|
0.00001
|
NM_001122681.2(SH3BP2):c.656A>T (p.Asp219Val)
|
rs150572069
|
0.00001
|
NM_001130823.3(DNMT1):c.3668G>A (p.Arg1223His)
|
rs757460628
|
0.00001
|
NM_001291088.2(WDR87):c.5282A>T (p.Glu1761Val)
|
rs917453243
|
0.00001
|
NM_001374828.1(ARID1B):c.1319G>C (p.Gly440Ala)
|
rs1332073619
|
0.00001
|
NM_001378454.1(ALMS1):c.10318A>G (p.Arg3440Gly)
|
rs746702722
|
0.00001
|
NM_001961.4(EEF2):c.1347-8T>G
|
rs376174565
|
0.00001
|
NM_003238.6(TGFB2):c.37C>A (p.His13Asn)
|
rs763918203
|
0.00001
|
NM_003919.3(SGCE):c.556G>A (p.Ala186Thr)
|
rs746585235
|
0.00001
|
NM_005184.4(CALM3):c.4-3C>T
|
rs756875833
|
0.00001
|
NM_005228.5(EGFR):c.1570G>A (p.Val524Ile)
|
rs587778249
|
0.00001
|
NM_005429.5(VEGFC):c.1156C>T (p.Arg386Trp)
|
rs370465436
|
0.00001
|
NM_006231.4(POLE):c.1359+4C>T
|
rs752118019
|
0.00001
|
NM_007272.3(CTRC):c.68C>T (p.Pro23Leu)
|
rs533967597
|
0.00001
|
NM_007294.4(BRCA1):c.2393C>T (p.Pro798Leu)
|
rs876660005
|
0.00001
|
NM_013447.4(ADGRE2):c.1805T>C (p.Ile602Thr)
|
rs534741485
|
0.00001
|
NM_013447.4(ADGRE2):c.248C>T (p.Ser83Leu)
|
rs201617124
|
0.00001
|
NM_015338.6(ASXL1):c.1957G>A (p.Gly653Arg)
|
rs537734228
|
0.00001
|
NM_017649.5(CNNM2):c.595G>A (p.Ala199Thr)
|
rs984170802
|
0.00001
|
NM_018136.5(ASPM):c.2195T>C (p.Leu732Ser)
|
rs587783224
|
0.00001
|
NM_020987.5(ANK3):c.8174G>A (p.Gly2725Asp)
|
rs993289778
|
0.00001
|
NM_021831.6(AGBL5):c.909-3C>T
|
rs772125178
|
0.00001
|
NM_024675.4(PALB2):c.353T>C (p.Ile118Thr)
|
rs370404126
|
0.00001
|
NM_032977.4(CASP10):c.49A>G (p.Lys17Glu)
|
rs552561721
|
0.00001
|
NM_144670.6(A2ML1):c.3264+5G>A
|
rs200006435
|
0.00001
|
NM_144670.6(A2ML1):c.483+6C>T
|
rs754169968
|
0.00001
|
NM_144687.4(NLRP12):c.19A>G (p.Arg7Gly)
|
rs773831845
|
0.00001
|
NM_144687.4(NLRP12):c.541C>T (p.Arg181Trp)
|
rs758607519
|
0.00001
|
NM_177438.3(DICER1):c.1631G>A (p.Arg544Gln)
|
rs143533680
|
0.00001
|
NM_182914.3(SYNE2):c.1318C>T (p.His440Tyr)
|
rs761844853
|
0.00001
|
NM_182914.3(SYNE2):c.9700G>C (p.Glu3234Gln)
|
rs372597797
|
0.00001
|
NM_206933.4(USH2A):c.14493A>T (p.Gly4831=)
|
rs113716139
|
0.00001
|
NM_000033.4(ABCD1):c.1823G>A (p.Gly608Asp)
|
rs78993751
|
|
NM_000038.6(APC):c.715G>C (p.Ala239Pro)
|
rs777760565
|
|
NM_000090.4(COL3A1):c.2723C>T (p.Ala908Val)
|
rs144036995
|
|
NM_000208.4(INSR):c.4133G>A (p.Arg1378Gln)
|
rs52826008
|
|
NM_000209.4(PDX1):c.97C>G (p.Pro33Ala)
|
rs192902098
|
|
NM_000243.3(MEFV):c.1223G>T (p.Arg408Leu)
|
rs11466024
|
|
NM_000334.4(SCN4A):c.5284G>A (p.Gly1762Arg)
|
rs763493738
|
|
NM_000335.5(SCN5A):c.4053C>T (p.Gly1351=)
|
rs587781165
|
|
NM_000335.5(SCN5A):c.4540-10C>A
|
rs750747122
|
|
NM_000399.5(EGR2):c.910GCC[7] (p.Ala309dup)
|
rs753747037
|
|
NM_000458.4(HNF1B):c.780G>C (p.Glu260Asp)
|
|
|
NM_000463.3(UGT1A1):c.686C>A (p.Pro229Gln)
|
rs35350960
|
|
NM_000527.5(LDLR):c.108C>A (p.Asp36Glu)
|
rs373144619
|
|
NM_000527.5(LDLR):c.1185G>C (p.Val395=)
|
rs879254818
|
|
NM_000527.5(LDLR):c.1546G>A (p.Gly516Ser)
|
|
|
NM_000527.5(LDLR):c.1802A>G (p.Asp601Gly)
|
rs879255027
|
|
NM_000527.5(LDLR):c.1808A>G (p.Lys603Arg)
|
rs1302327551
|
|
NM_000527.5(LDLR):c.2389+4A>G
|
rs758493597
|
|
NM_000718.4(CACNA1B):c.2681A>T (p.Lys894Met)
|
|
|
NM_001003800.2(BICD2):c.1993G>T (p.Val665Leu)
|
rs587777885
|
|
NM_001040108.2(MLH3):c.2221G>A (p.Val741Ile)
|
rs28756990
|
|
NM_001042492.3(NF1):c.1954C>T (p.Arg652Cys)
|
rs786202436
|
|
NM_001083614.2(EARS2):c.263_264delinsAA (p.Ala88Glu)
|
rs1555504721
|
|
NM_001083961.2(WDR62):c.3271_3273del (p.His1091del)
|
rs794727435
|
|
NM_001114753.3(ENG):c.-115G>C
|
rs546892762
|
|
NM_001130823.3(DNMT1):c.3948+4G>A
|
rs774356396
|
|
NM_001142864.4(PIEZO1):c.2247GGA[9] (p.Glu756dup)
|
rs59446030
|
|
NM_001142864.4(PIEZO1):c.3699+20_3699+21delinsCG
|
rs1904465031
|
|
NM_001291088.2(WDR87):c.6889GAGGAGGAGGAGGAAAGG[3] (p.2285EEEEER[5])
|
rs763153590
|
|
NM_001360016.2(G6PD):c.445G>A (p.Ala149Thr)
|
|
|
NM_001370259.2(MEN1):c.1072GAG[1] (p.Glu359del)
|
rs1060499971
|
|
NM_001371986.1(UNC80):c.1936C>T (p.His646Tyr)
|
rs1467598370
|
|
NM_001374828.1(ARID1B):c.501CCA[6] (p.His172dup)
|
rs752012879
|
|
NM_001376256.1(CRYM):c.523_524delinsTT (p.Glu175Leu)
|
rs386789728
|
|
NM_001384474.1(LOXHD1):c.4148C>G (p.Thr1383Arg)
|
rs7244681
|
|
NM_001437.3(ESR2):c.541_543del (p.Asn181del)
|
rs750091675
|
|
NM_001447.3(FAT2):c.10148C>T (p.Ala3383Val)
|
|
|
NM_001447.3(FAT2):c.12913G>A (p.Ala4305Thr)
|
|
|
NM_001447.3(FAT2):c.59A>G (p.Lys20Arg)
|
|
|
NM_001447.3(FAT2):c.7463C>T (p.Ala2488Val)
|
|
|
NM_001451.3(FOXF1):c.36CGG[9] (p.Gly23dup)
|
rs574179816
|
|
NM_001451.3(FOXF1):c.60_62del (p.Gly23del)
|
rs757668134
|
|
NM_001563.4(IMPG1):c.1930T>G (p.Ser644Ala)
|
rs1781946410
|
|
NM_001715.3(BLK):c.391C>T (p.Arg131Trp)
|
rs73663163
|
|
NM_001754.5(RUNX1):c.1270T>C (p.Ser424Pro)
|
rs2056451534
|
|
NM_002386.4(MC1R):c.667C>T (p.Arg223Trp)
|
rs372152373
|
|
NM_002578.5(PAK3):c.525_527del (p.Asp175del)
|
rs770793505
|
|
NM_002693.3(POLG):c.126GCA[1] (p.Gln46_Gln55del)
|
rs41550117
|
|
NM_002769.5(PRSS1):c.200+1G>A
|
rs143909348
|
|
NM_002769.5(PRSS1):c.202C>T (p.Arg68Cys)
|
rs145867820
|
|
NM_002769.5(PRSS1):c.40C>G (p.Leu14Val)
|
rs747228052
|
|
NM_003070.5(SMARCA2):c.685_686insCGC (p.Gln228_Gln229insPro)
|
rs751906633
|
|
NM_003242.6(TGFBR2):c.383del (p.Lys128fs)
|
rs79375991
|
|
NM_003470.3(USP7):c.12G>C (p.Gln4His)
|
|
|
NM_003640.5(ELP1):c.2825G>A (p.Arg942Gln)
|
rs149845612
|
|
NM_003661.4(APOL1):c.1164_1169del (p.Asn388_Tyr389del)
|
rs71785313
|
|
NM_003978.5(PSTPIP1):c.1119+5G>C
|
rs756068066
|
|
NM_004304.5(ALK):c.1720G>C (p.Gly574Arg)
|
rs762358335
|
|
NM_004360.5(CDH1):c.820G>A (p.Gly274Ser)
|
rs781513008
|
|
NM_004444.5(EPHB4):c.2698G>C (p.Asp900His)
|
|
|
NM_004523.4(KIF11):c.1435G>C (p.Glu479Gln)
|
rs547554309
|
|
NM_004863.4(SPTLC2):c.1247T>C (p.Val416Ala)
|
rs577862696
|
|
NM_004977.3(KCNC3):c.1760C>T (p.Pro587Leu)
|
rs554197864
|
|
NM_004977.3(KCNC3):c.781GCGGGCGGC[3] (p.261AGG[3])
|
rs764571894
|
|
NM_005022.4(PFN1):c.350_351delinsGT (p.Glu117Gly)
|
rs1597686012
|
|
NM_005222.4(DLX6):c.75GCA[6] (p.Gln43_Gln44del)
|
|
|
NM_005535.3(IL12RB1):c.1132G>A (p.Gly378Arg)
|
rs401502
|
|
NM_006245.4(PPP2R5D):c.1588C>T (p.Pro530Ser)
|
rs140491750
|
|
NM_006412.4(AGPAT2):c.199G>A (p.Val67Met)
|
rs563539429
|
|
NM_006506.5(RASA2):c.12_32dup (p.Ala5_Ala11dup)
|
rs1194909078
|
|
NM_006506.5(RASA2):c.1549G>T (p.Val517Leu)
|
rs201190266
|
|
NM_006516.4(SLC2A1):c.679+4C>A
|
rs139492241
|
|
NM_006517.5(SLC16A2):c.97_108del (p.Ser33_Glu36del)
|
rs753170095
|
|
NM_006563.5(KLF1):c.809C>G (p.Ser270Trp)
|
rs558942739
|
|
NM_006767.4(LZTR1):c.26G>C (p.Gly9Ala)
|
rs756485244
|
|
NM_007286.6(SYNPO):c.2372CCCCGC[2] (p.Pro795_Pro800del)
|
|
|
NM_007286.6(SYNPO):c.2372CCCCGC[3] (p.Pro797_Pro800del)
|
rs769259449
|
|
NM_007294.4(BRCA1):c.2283A>C (p.Glu761Asp)
|
rs1567796302
|
|
NM_012418.4(FSCN2):c.829G>A (p.Val277Ile)
|
rs181420326
|
|
NM_013447.4(ADGRE2):c.1230G>A (p.Met410Ile)
|
rs1005458732
|
|
NM_013447.4(ADGRE2):c.1629del (p.Gly543_Leu544insTer)
|
rs747459594
|
|
NM_013447.4(ADGRE2):c.1780G>T (p.Gly594Ter)
|
rs148074899
|
|
NM_013447.4(ADGRE2):c.208G>A (p.Glu70Lys)
|
rs1010286043
|
|
NM_013447.4(ADGRE2):c.2138G>T (p.Arg713Ile)
|
rs200295887
|
|
NM_016239.4(MYO15A):c.3130_3147dup (p.Ile1044_Asp1049dup)
|
rs377177611
|
|
NM_016579.4(CD320):c.256GAG[2] (p.Glu88del)
|
rs150384171
|
|
NM_017755.6(NSUN2):c.2194G>A (p.Val732Met)
|
|
|
NM_018417.6(ADCY10):c.3864A>C (p.Lys1288Asn)
|
|
|
NM_020435.4(GJC2):c.454GAG[6] (p.Glu158del)
|
rs746050475
|
|
NM_020693.4(DSCAML1):c.5951C>T (p.Ala1984Val)
|
|
|
NM_020831.6(MRTFA):c.1993GCCCCC[2] (p.665AP[2])
|
rs754085988
|
|
NM_020928.2(ZSWIM6):c.151GCG[4] (p.Ala55_Ala56del)
|
rs779283808
|
|
NM_020928.2(ZSWIM6):c.522CGC[8] (p.Ala183_Ala184del)
|
|
|
NM_021814.5(ELOVL5):c.871G>A (p.Val291Met)
|
|
|
NM_021969.3(NR0B2):c.157_166del (p.His53fs)
|
rs540387719
|
|
NM_024596.5(MCPH1):c.1781C>G (p.Thr594Arg)
|
rs115033462
|
|
NM_030665.4(RAI1):c.76C>T (p.Arg26Cys)
|
rs376964045
|
|
NM_032656.4(DHX37):c.478GAG[11] (p.Glu168_Ser169insGluGlu)
|
|
|
NM_052872.4(IL17F):c.254+1G>A
|
rs117796773
|
|
NM_052876.4(NACC1):c.979G>C (p.Ala327Pro)
|
rs759246551
|
|
NM_130837.3(OPA1):c.1935+3A>G
|
rs398124300
|
|
NM_133459.4(CCBE1):c.1079G>A (p.Arg360Gln)
|
rs200219373
|
|
NM_139242.4(MTFMT):c.1129A>C (p.Lys377Gln)
|
rs34507711
|
|
NM_144670.6(A2ML1):c.2145del (p.Phe715fs)
|
rs759217676
|
|
NM_144670.6(A2ML1):c.2719_2720del (p.Gly907fs)
|
rs560609581
|
|
NM_144687.4(NLRP12):c.3152G>C (p.Arg1051Pro)
|
rs777108086
|
|
NM_152564.5(VPS13B):c.8776AAG[1] (p.Lys2927del)
|
rs549810522
|
|
NM_170606.3(KMT2C):c.4507+5A>G
|
rs2129129571
|
|
NM_182641.4(BPTF):c.8102C>T (p.Thr2701Met)
|
|
|
NM_182914.3(SYNE2):c.13526G>A (p.Arg4509His)
|
rs200946949
|
|
NM_183381.3(RNF13):c.427A>G (p.Ile143Val)
|
|
|
NM_198994.3(TGM6):c.245G>T (p.Gly82Val)
|
rs144094215
|
|
NM_206933.4(USH2A):c.5026G>A (p.Val1676Ile)
|
rs768619553
|
|
NM_207122.2(EXT2):c.1250G>A (p.Arg417Gln)
|
rs753542290
|
|
Single allele
|
|
|