NM_013447.4(ADGRE2):c.461A>T (p.Lys154Ile)
|
rs12985807
|
0.32696
|
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln)
|
rs3743930
|
0.02112
|
NM_022168.4(IFIH1):c.1641+1G>C
|
rs35337543
|
0.00728
|
NM_144687.4(NLRP12):c.3046C>T (p.Arg1016Ter)
|
rs35064500
|
0.00470
|
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln)
|
rs34324426
|
0.00294
|
NM_018725.4(IL17RB):c.146G>A (p.Arg49Gln)
|
rs116821431
|
0.00281
|
NM_031272.5(TEX14):c.3818-1G>A
|
rs55759912
|
0.00233
|
NM_002335.4(LRP5):c.3107G>A (p.Arg1036Gln)
|
rs61889560
|
0.00207
|
NM_001270508.2(TNFAIP3):c.1939A>C (p.Thr647Pro)
|
rs142253225
|
0.00189
|
NM_024753.5(TTC21B):c.2600G>A (p.Arg867His)
|
rs76726265
|
0.00161
|
NM_006214.4(PHYH):c.244C>G (p.Arg82Gly)
|
rs145404396
|
0.00140
|
NM_001363711.2(DUOX2):c.1709A>T (p.Gln570Leu)
|
rs547116063
|
0.00131
|
NM_000104.4(CYP1B1):c.1103G>A (p.Arg368His)
|
rs79204362
|
0.00125
|
NM_001875.5(CPS1):c.3643A>G (p.Ile1215Val)
|
rs141373204
|
0.00119
|
NM_013447.4(ADGRE2):c.457C>T (p.Leu153Phe)
|
rs12976493
|
0.00118
|
NM_080911.3(UNG):c.262C>T (p.Arg88Cys)
|
rs151095402
|
0.00090
|
NM_013391.3(DMGDH):c.972G>A (p.Trp324Ter)
|
rs139044238
|
0.00088
|
NM_138694.4(PKHD1):c.7912-5T>G
|
rs371510537
|
0.00075
|
NM_016239.4(MYO15A):c.3622C>T (p.Arg1208Cys)
|
rs201618718
|
0.00063
|
NM_198506.5(LRIT3):c.583A>G (p.Ile195Val)
|
rs182054858
|
0.00063
|
NM_016356.5(DCDC2):c.817C>T (p.Pro273Ser)
|
rs146787541
|
0.00061
|
NM_000023.4(SGCA):c.421C>A (p.Arg141Ser)
|
rs35130237
|
0.00056
|
NM_138694.4(PKHD1):c.5134G>A (p.Gly1712Arg)
|
rs141103838
|
0.00056
|
NM_001377.3(DYNC2H1):c.1774C>T (p.Leu592Phe)
|
rs180861816
|
0.00052
|
NM_145207.3(AFG2A):c.1622C>G (p.Pro541Arg)
|
rs143957561
|
0.00049
|
NM_182961.4(SYNE1):c.16850G>A (p.Arg5617Gln)
|
rs141550859
|
0.00049
|
NM_000500.9(CYP21A2):c.1447C>T (p.Pro483Ser)
|
rs776989258
|
0.00047
|
NM_006764.5(IFRD2):c.47G>A (p.Arg16His)
|
rs369636527
|
0.00046
|
NM_000104.4(CYP1B1):c.917G>A (p.Gly306Glu)
|
rs372321135
|
0.00039
|
NM_001128840.3(CACNA1D):c.2729G>A (p.Arg910His)
|
rs115066564
|
0.00036
|
NM_001384125.1(BLTP1):c.3046G>A (p.Gly1016Ser)
|
rs186329526
|
0.00032
|
NM_001457.4(FLNB):c.4061+4G>A
|
rs370061963
|
0.00032
|
NM_000158.4(GBE1):c.986A>G (p.Tyr329Cys)
|
rs80338671
|
0.00029
|
NM_005670.4(EPM2A):c.148G>A (p.Gly50Arg)
|
rs753397854
|
0.00029
|
NM_022168.4(IFIH1):c.2016del (p.Asp673fs)
|
rs773033563
|
0.00028
|
NM_004473.4(FOXE1):c.353C>T (p.Ala118Val)
|
rs149751469
|
0.00026
|
NM_016373.4(WWOX):c.713A>G (p.Tyr238Cys)
|
rs142806268
|
0.00026
|
NM_173842.3(IL1RN):c.272G>T (p.Cys91Phe)
|
rs201638660
|
0.00025
|
NM_198282.4(STING1):c.289G>A (p.Ala97Thr)
|
rs181566154
|
0.00025
|
NM_032229.3(SLITRK6):c.2413T>C (p.Tyr805His)
|
rs200882739
|
0.00024
|
NM_080680.3(COL11A2):c.2536C>T (p.Arg846Trp)
|
rs149071920
|
0.00024
|
NM_138694.4(PKHD1):c.10036T>C (p.Cys3346Arg)
|
rs149798764
|
0.00024
|
NM_001199799.2(ILDR1):c.866T>G (p.Leu289Trp)
|
rs141450561
|
0.00023
|
NM_001370466.1(NOD2):c.1036C>T (p.Arg346Cys)
|
rs145293873
|
0.00021
|
NM_003114.5(SPAG1):c.2707G>A (p.Asp903Asn)
|
rs148756457
|
0.00021
|
NM_015192.4(PLCB1):c.2474A>G (p.Lys825Arg)
|
rs146646749
|
0.00019
|
NM_014639.4(SKIC3):c.3808C>G (p.Pro1270Ala)
|
rs146627706
|
0.00018
|
NM_198253.3(TERT):c.604G>A (p.Ala202Thr)
|
rs121918661
|
0.00018
|
NM_000545.8(HNF1A):c.716C>T (p.Ala239Val)
|
rs587778397
|
0.00016
|
NM_001005242.3(PKP2):c.1951C>T (p.Arg651Cys)
|
rs199583774
|
0.00016
|
NM_001756.4(SERPINA6):c.1165G>A (p.Asp389Asn)
|
rs28929488
|
0.00016
|
NM_016239.4(MYO15A):c.5866C>T (p.Arg1956Trp)
|
rs185873402
|
0.00016
|
NM_015340.4(LARS2):c.2620G>A (p.Glu874Lys)
|
rs142215302
|
0.00015
|
NM_001363711.2(DUOX2):c.1825C>T (p.Pro609Ser)
|
rs201221237
|
0.00014
|
NM_005609.4(PYGM):c.2203C>T (p.Arg735Cys)
|
rs559363120
|
0.00013
|
NM_152641.4(ARID2):c.4853C>A (p.Ser1618Tyr)
|
rs144553917
|
0.00013
|
NM_170606.3(KMT2C):c.1042G>A (p.Asp348Asn)
|
rs201834857
|
0.00013
|
NM_001367624.2(ZNF469):c.7340G>C (p.Arg2447Thr)
|
rs558035857
|
0.00012
|
NM_001384474.1(LOXHD1):c.683C>T (p.Pro228Leu)
|
rs372408513
|
0.00012
|
NM_024884.3(L2HGDH):c.713A>G (p.Tyr238Cys)
|
rs149220807
|
0.00012
|
NM_053025.4(MYLK):c.3112A>G (p.Met1038Val)
|
rs763247566
|
0.00012
|
NM_000492.4(CFTR):c.1163C>T (p.Thr388Met)
|
rs143860237
|
0.00011
|
NM_153026.3(PRICKLE1):c.391T>G (p.Leu131Val)
|
rs35731866
|
0.00011
|
NM_000383.4(AIRE):c.927C>G (p.Ile309Met)
|
rs74162062
|
0.00010
|
NM_001135022.2(ELMOD3):c.298C>T (p.Gln100Ter)
|
rs753265000
|
0.00010
|
NM_032119.4(ADGRV1):c.155G>A (p.Arg52His)
|
rs199798095
|
0.00010
|
NM_174924.2(PDILT):c.854G>A (p.Ser285Asn)
|
rs193085306
|
0.00010
|
NM_001033855.3(DCLRE1C):c.590G>A (p.Ser197Asn)
|
rs773799685
|
0.00009
|
NM_001292063.2(OTOG):c.7054C>T (p.Arg2352Trp)
|
rs756364973
|
0.00009
|
NM_002693.3(POLG):c.3176A>G (p.Asn1059Ser)
|
rs201192905
|
0.00009
|
NM_012452.3(TNFRSF13B):c.577T>C (p.Cys193Arg)
|
rs764125338
|
0.00009
|
NM_014002.4(IKBKE):c.541-5G>A
|
rs187136164
|
0.00009
|
NM_014241.4(HACD1):c.853G>C (p.Glu285Gln)
|
rs556888412
|
0.00009
|
NM_017872.5(THG1L):c.136A>T (p.Thr46Ser)
|
rs779170813
|
0.00009
|
NM_024312.5(GNPTAB):c.2900A>G (p.Gln967Arg)
|
rs192687061
|
0.00009
|
NM_031475.3(ESPN):c.1025C>T (p.Ser342Phe)
|
rs199502924
|
0.00009
|
NM_001163435.3(TBCK):c.1804G>A (p.Ala602Thr)
|
rs150221832
|
0.00008
|
NM_000540.3(RYR1):c.6670C>T (p.Arg2224Cys)
|
rs199870223
|
0.00007
|
NM_001378778.1(MPDZ):c.394G>A (p.Gly132Ser)
|
rs201101621
|
0.00007
|
NM_000046.5(ARSB):c.1534G>A (p.Val512Met)
|
rs201928777
|
0.00006
|
NM_000135.4(FANCA):c.4273C>T (p.Arg1425Cys)
|
rs587778321
|
0.00006
|
NM_000271.5(NPC1):c.2747A>G (p.Asn916Ser)
|
rs756815669
|
0.00006
|
NM_004946.3(DOCK2):c.2704-3C>T
|
rs144101028
|
0.00006
|
NM_012452.3(TNFRSF13B):c.740C>T (p.Thr247Met)
|
rs149635611
|
0.00006
|
NM_014915.3(ANKRD26):c.2260A>T (p.Lys754Ter)
|
rs767240266
|
0.00006
|
NM_015346.4(ZFYVE26):c.2585C>G (p.Pro862Arg)
|
rs138050875
|
0.00006
|
NM_182961.4(SYNE1):c.21706G>A (p.Ala7236Thr)
|
rs202121741
|
0.00006
|
NM_000243.3(MEFV):c.460T>C (p.Ser154Pro)
|
rs756975501
|
0.00005
|
NM_000326.5(RLBP1):c.167A>T (p.Glu56Val)
|
rs540203768
|
0.00005
|
NM_001100913.3(PACS2):c.1269-4A>G
|
rs376690008
|
0.00005
|
NM_001103146.3(GIGYF2):c.2378C>T (p.Ala793Val)
|
rs748538823
|
0.00005
|
NM_001142864.4(PIEZO1):c.4850C>T (p.Thr1617Met)
|
rs906425217
|
0.00005
|
NM_001365276.2(TNXB):c.7459C>T (p.Arg2487Cys)
|
rs747880757
|
0.00005
|
NM_004153.4(ORC1):c.608C>T (p.Thr203Ile)
|
rs202095223
|
0.00005
|
NM_004827.3(ABCG2):c.791_792del (p.Leu264fs)
|
rs387906870
|
0.00005
|
NM_006279.5(ST3GAL3):c.502G>A (p.Val168Ile)
|
rs758155830
|
0.00005
|
NM_014704.4(CEP104):c.583T>G (p.Ser195Ala)
|
rs760840197
|
0.00005
|
NM_015087.5(SPART):c.466C>T (p.Pro156Ser)
|
rs202174672
|
0.00005
|
NM_015466.4(PTPN23):c.4844G>A (p.Arg1615Gln)
|
rs754863024
|
0.00005
|
NM_173354.5(SIK1):c.1294C>T (p.Arg432Trp)
|
rs748371566
|
0.00005
|
NM_000143.4(FH):c.580G>A (p.Ala194Thr)
|
rs587782215
|
0.00004
|
NM_000414.4(HSD17B4):c.1767+4T>C
|
rs747282423
|
0.00004
|
NM_000426.4(LAMA2):c.2512G>A (p.Gly838Arg)
|
rs150361703
|
0.00004
|
NM_000492.4(CFTR):c.358G>A (p.Ala120Thr)
|
rs201958172
|
0.00004
|
NM_001322934.2(NFKB2):c.2042C>T (p.Pro681Leu)
|
rs534798728
|
0.00004
|
NM_001330078.2(NRXN1):c.4237G>A (p.Gly1413Ser)
|
rs200604893
|
0.00004
|
NM_001360.3(DHCR7):c.1091C>T (p.Thr364Met)
|
rs567600444
|
0.00004
|
NM_005458.8(GABBR2):c.613G>A (p.Val205Ile)
|
rs146801036
|
0.00004
|
NM_015295.3(SMCHD1):c.263A>G (p.Asp88Gly)
|
rs200521548
|
0.00004
|
NM_018297.4(NGLY1):c.1249C>T (p.Leu417Phe)
|
rs777927774
|
0.00004
|
NM_133642.5(LARGE1):c.26G>A (p.Arg9Gln)
|
rs763697782
|
0.00004
|
NM_000488.4(SERPINC1):c.100G>A (p.Gly34Arg)
|
rs773254902
|
0.00003
|
NM_001018115.3(FANCD2):c.2965C>G (p.Pro989Ala)
|
rs200568638
|
0.00003
|
NM_002968.3(SALL1):c.3808G>A (p.Gly1270Arg)
|
rs369070446
|
0.00003
|
NM_004533.4(MYBPC2):c.1522_1523dup (p.Phe510fs)
|
rs764445302
|
0.00003
|
NM_007332.3(TRPA1):c.2520C>A (p.Tyr840Ter)
|
rs753392383
|
0.00003
|
NM_014363.6(SACS):c.1941G>T (p.Lys647Asn)
|
rs201021919
|
0.00003
|
NM_020987.5(ANK3):c.1882G>A (p.Ala628Thr)
|
rs540939855
|
0.00003
|
NM_022095.4(ZNF335):c.1508G>A (p.Arg503His)
|
rs765260747
|
0.00003
|
NM_022166.4(XYLT1):c.2807C>T (p.Thr936Met)
|
rs768752782
|
0.00003
|
NM_033100.4(CDHR1):c.628G>A (p.Val210Met)
|
rs774747506
|
0.00003
|
NM_174878.3(CLRN1):c.356T>C (p.Phe119Ser)
|
rs764099313
|
0.00003
|
NM_182961.4(SYNE1):c.10766C>T (p.Thr3589Ile)
|
rs201487756
|
0.00003
|
NM_198053.3(CD247):c.58+8C>T
|
rs201494226
|
0.00003
|
NM_000091.5(COL4A3):c.898G>A (p.Gly300Arg)
|
rs772708743
|
0.00002
|
NM_000414.4(HSD17B4):c.1213C>T (p.Leu405Phe)
|
rs746616691
|
0.00002
|
NM_000744.7(CHRNA4):c.640G>A (p.Ala214Thr)
|
rs758348186
|
0.00002
|
NM_001004334.4(GPR179):c.274C>A (p.Pro92Thr)
|
rs1331610447
|
0.00002
|
NM_001004334.4(GPR179):c.5627G>C (p.Trp1876Ser)
|
rs1290248528
|
0.00002
|
NM_001164508.2(NEB):c.19325G>A (p.Arg6442Gln)
|
rs375182306
|
0.00002
|
NM_001375808.2(LPIN2):c.839G>A (p.Arg280Gln)
|
rs749727482
|
0.00002
|
NM_001378120.1(MBD5):c.2627G>A (p.Gly876Glu)
|
rs766460176
|
0.00002
|
NM_001386298.1(CIC):c.281A>G (p.Lys94Arg)
|
rs539540626
|
0.00002
|
NM_001753.5(CAV1):c.407G>A (p.Ser136Asn)
|
rs775940936
|
0.00002
|
NM_004230.4(S1PR2):c.985C>T (p.Arg329Cys)
|
rs765378016
|
0.00002
|
NM_004369.4(COL6A3):c.1897+3A>G
|
rs369549597
|
0.00002
|
NM_004994.3(MMP9):c.80C>T (p.Thr27Ile)
|
rs201841087
|
0.00002
|
NM_007078.3(LDB3):c.47G>A (p.Arg16His)
|
rs767986134
|
0.00002
|
NM_012452.3(TNFRSF13B):c.283C>G (p.Gln95Glu)
|
rs549493928
|
0.00002
|
NM_016292.3(TRAP1):c.1204C>T (p.Arg402Trp)
|
rs768200676
|
0.00002
|
NM_020549.5(CHAT):c.707C>T (p.Ala236Val)
|
rs770250348
|
0.00002
|
NM_032977.4(CASP10):c.347+2T>G
|
rs536573363
|
0.00002
|
NM_152296.5(ATP1A3):c.2418+3G>A
|
rs782778060
|
0.00002
|
NM_000046.5(ARSB):c.74C>A (p.Pro25Gln)
|
rs576541936
|
0.00001
|
NM_000070.3(CAPN3):c.2107C>T (p.Leu703Phe)
|
rs751443759
|
0.00001
|
NM_000070.3(CAPN3):c.2260G>A (p.Ala754Thr)
|
rs137927542
|
0.00001
|
NM_000175.5(GPI):c.880G>A (p.Glu294Lys)
|
rs560277140
|
0.00001
|
NM_000218.3(KCNQ1):c.514G>A (p.Val172Met)
|
rs199472694
|
0.00001
|
NM_000256.3(MYBPC3):c.495G>C (p.Glu165Asp)
|
rs730880619
|
0.00001
|
NM_000294.3(PHKG2):c.469G>A (p.Glu157Lys)
|
rs752961445
|
0.00001
|
NM_000426.4(LAMA2):c.442C>T (p.Arg148Trp)
|
rs752485547
|
0.00001
|
NM_000463.3(UGT1A1):c.1075G>A (p.Asp359Asn)
|
rs267599273
|
0.00001
|
NM_000702.4(ATP1A2):c.1577C>T (p.Pro526Leu)
|
rs764078366
|
0.00001
|
NM_000834.5(GRIN2B):c.2627C>T (p.Ala876Val)
|
rs1458368988
|
0.00001
|
NM_001039141.3(TRIOBP):c.7073C>T (p.Ser2358Leu)
|
rs750498327
|
0.00001
|
NM_001102564.3(IFT43):c.296-5697G>A
|
rs756700836
|
0.00001
|
NM_001110556.2(FLNA):c.1372G>A (p.Val458Ile)
|
rs782791907
|
0.00001
|
NM_001127222.2(CACNA1A):c.2842C>T (p.Arg948Cys)
|
rs16978975
|
0.00001
|
NM_001130438.3(SPTAN1):c.3358G>A (p.Gly1120Arg)
|
rs748698544
|
0.00001
|
NM_001134407.3(GRIN2A):c.77C>T (p.Ala26Val)
|
rs765986049
|
0.00001
|
NM_001146079.2(CLDN14):c.523C>T (p.Leu175Phe)
|
rs760657763
|
0.00001
|
NM_001159.4(AOX1):c.1303G>T (p.Glu435Ter)
|
rs1477876544
|
0.00001
|
NM_001163809.2(WDR81):c.2267G>A (p.Arg756Gln)
|
rs1457395294
|
0.00001
|
NM_001242896.3(DEPDC5):c.3515C>A (p.Thr1172Asn)
|
rs865860087
|
0.00001
|
NM_001242896.3(DEPDC5):c.4583G>A (p.Arg1528Gln)
|
rs758757956
|
0.00001
|
NM_001252024.2(TRPM1):c.1263G>A (p.Pro421=)
|
rs768701595
|
0.00001
|
NM_001267550.2(TTN):c.313A>C (p.Asn105His)
|
rs780972429
|
0.00001
|
NM_001363711.2(DUOX2):c.144C>A (p.His48Gln)
|
rs779289206
|
0.00001
|
NM_001378615.1(CC2D2A):c.3601G>A (p.Gly1201Arg)
|
rs1392733763
|
0.00001
|
NM_001384474.1(LOXHD1):c.6526G>A (p.Val2176Met)
|
rs745938801
|
0.00001
|
NM_001394062.1(MACF1):c.1817A>T (p.Asp606Val)
|
rs1645798633
|
0.00001
|
NM_001395333.1(MTCL1):c.4420A>G (p.Lys1474Glu)
|
rs868860974
|
0.00001
|
NM_001572.5(IRF7):c.709G>T (p.Gly237Trp)
|
rs760665585
|
0.00001
|
NM_001849.4(COL6A2):c.1111G>A (p.Gly371Ser)
|
rs768542626
|
0.00001
|
NM_001875.5(CPS1):c.937A>G (p.Met313Val)
|
rs587780323
|
0.00001
|
NM_002241.5(KCNJ10):c.652C>T (p.Leu218Phe)
|
rs558502886
|
0.00001
|
NM_002547.3(OPHN1):c.1139T>C (p.Met380Thr)
|
rs770608210
|
0.00001
|
NM_002661.5(PLCG2):c.3393T>A (p.Phe1131Leu)
|
rs754374903
|
0.00001
|
NM_002691.4(POLD1):c.1873G>A (p.Gly625Arg)
|
rs1060501836
|
0.00001
|
NM_003742.4(ABCB11):c.3687T>G (p.Ile1229Met)
|
rs780956310
|
0.00001
|
NM_003742.4(ABCB11):c.3962G>A (p.Ser1321Asn)
|
rs201693189
|
0.00001
|
NM_005026.5(PIK3CD):c.1955+5C>T
|
rs201785210
|
0.00001
|
NM_005045.4(RELN):c.673T>G (p.Cys225Gly)
|
rs371731772
|
0.00001
|
NM_005488.3(TOM1):c.53-8C>A
|
rs555423294
|
0.00001
|
NM_005720.4(ARPC1B):c.713C>T (p.Ala238Val)
|
rs369966813
|
0.00001
|
NM_006157.5(NELL1):c.854C>G (p.Ser285Cys)
|
rs766019151
|
0.00001
|
NM_006922.4(SCN3A):c.1966T>G (p.Leu656Val)
|
rs764003738
|
0.00001
|
NM_015046.7(SETX):c.6248G>T (p.Arg2083Ile)
|
rs751252138
|
0.00001
|
NM_015102.5(NPHP4):c.2719G>A (p.Glu907Lys)
|
rs1310354413
|
0.00001
|
NM_015178.3(RHOBTB2):c.508C>T (p.Pro170Ser)
|
rs761440038
|
0.00001
|
NM_015274.3(MAN2B2):c.138+1G>A
|
rs536839038
|
0.00001
|
NM_015443.4(KANSL1):c.3011C>T (p.Pro1004Leu)
|
rs573432386
|
0.00001
|
NM_016030.6(TRAPPC12):c.1603+5G>C
|
rs747491323
|
0.00001
|
NM_016529.6(ATP8A2):c.1665G>A (p.Met555Ile)
|
rs1398724919
|
0.00001
|
NM_018122.5(DARS2):c.1825C>T (p.Arg609Trp)
|
rs200670286
|
0.00001
|
NM_018129.4(PNPO):c.148G>A (p.Glu50Lys)
|
rs549477447
|
0.00001
|
NM_018194.6(HHAT):c.1436A>G (p.Tyr479Cys)
|
rs1389282522
|
0.00001
|
NM_018699.4(PRDM5):c.670A>T (p.Lys224Ter)
|
rs1064794819
|
0.00001
|
NM_020533.3(MCOLN1):c.1208G>A (p.Arg403His)
|
rs1248175158
|
0.00001
|
NM_020975.6(RET):c.2018A>C (p.Glu673Ala)
|
rs770100231
|
0.00001
|
NM_021831.6(AGBL5):c.826C>T (p.Arg276Trp)
|
rs879253769
|
0.00001
|
NM_022481.6(ARAP3):c.2086C>G (p.Pro696Ala)
|
rs1230022777
|
0.00001
|
NM_024740.2(ALG9):c.879T>G (p.His293Gln)
|
rs1285072714
|
0.00001
|
NM_024783.4(AGBL2):c.619C>T (p.Gln207Ter)
|
rs766879154
|
0.00001
|
NM_033004.4(NLRP1):c.3248C>T (p.Thr1083Met)
|
rs756567220
|
0.00001
|
NM_033132.5(ZIC5):c.211C>T (p.His71Tyr)
|
rs1314711909
|
0.00001
|
NM_152268.4(PARS2):c.706A>G (p.Lys236Glu)
|
rs1301028412
|
0.00001
|
NM_152906.7(TANGO2):c.703G>A (p.Gly235Ser)
|
rs771969240
|
0.00001
|
NM_182706.5(SCRIB):c.766C>T (p.Arg256Trp)
|
rs766529502
|
0.00001
|
NM_182961.4(SYNE1):c.25624C>T (p.Arg8542Trp)
|
rs764235096
|
0.00001
|
NM_199242.3(UNC13D):c.3141C>A (p.Pro1047=)
|
rs866899109
|
0.00001
|
NM_000064.4(C3):c.1402G>A (p.Gly468Arg)
|
rs148820222
|
|
NM_000064.4(C3):c.3478G>A (p.Glu1160Lys)
|
|
|
NM_000079.4(CHRNA1):c.670C>T (p.His224Tyr)
|
|
|
NM_000081.4(LYST):c.5634+11A>G
|
|
|
NM_000089.4(COL1A2):c.896A>C (p.Asn299Thr)
|
rs2115893108
|
|
NM_000091.5(COL4A3):c.1418G>A (p.Gly473Asp)
|
|
|
NM_000098.3(CPT2):c.578G>A (p.Arg193His)
|
rs765824169
|
|
NM_000130.5(F5):c.5959T>C (p.Ser1987Pro)
|
rs1174590593
|
|
NM_000151.4(G6PC1):c.643T>C (p.Phe215Leu)
|
rs780212338
|
|
NM_000168.6(GLI3):c.3098C>A (p.Pro1033Gln)
|
rs376956433
|
|
NM_000243.3(MEFV):c.586G>T (p.Gly196Trp)
|
rs104895179
|
|
NM_000278.5(PAX2):c.*20A>T
|
|
|
NM_000291.4(PGK1):c.1043T>G (p.Phe348Cys)
|
rs2149137029
|
|
NM_000292.3(PHKA2):c.473C>T (p.Thr158Ile)
|
rs2147981456
|
|
NM_000326.5(RLBP1):c.-223-1G>A
|
rs1032783403
|
|
NM_000330.4(RS1):c.52+3A>G
|
rs2147209764
|
|
NM_000334.4(SCN4A):c.4382T>G (p.Leu1461Arg)
|
rs2144774799
|
|
NM_000343.4(SLC5A1):c.437C>T (p.Ser146Phe)
|
|
|
NM_000368.5(TSC1):c.1066A>G (p.Thr356Ala)
|
rs2131962146
|
|
NM_000397.4(CYBB):c.1390C>A (p.Gln464Lys)
|
|
|
NM_000431.4(MVK):c.733G>T (p.Ala245Ser)
|
rs2136245024
|
|
NM_000441.2(SLC26A4):c.1265T>C (p.Val422Ala)
|
rs1057520369
|
|
NM_000466.3(PEX1):c.3419_3424del (p.Asn1140_Gly1141del)
|
rs758076338
|
|
NM_000492.4(CFTR):c.640C>G (p.Leu214Val)
|
rs188457893
|
|
NM_000503.6(EYA1):c.1051-5T>G
|
rs2128904621
|
|
NM_000506.5(F2):c.650G>A (p.Arg217Gln)
|
|
|
NM_000508.5(FGA):c.2350C>T (p.Gln784Ter)
|
rs148824832
|
|
NM_000525.4(KCNJ11):c.629T>C (p.Ile210Thr)
|
rs2133379868
|
|
NM_000540.3(RYR1):c.13213G>A (p.Gly4405Ser)
|
|
|
NM_000540.3(RYR1):c.2335G>A (p.Val779Ile)
|
|
|
NM_000542.5(SFTPB):c.68-8A>G
|
|
|
NM_000548.5(TSC2):c.379A>G (p.Ile127Val)
|
rs1207714822
|
|
NM_000719.7(CACNA1C):c.2854-11C>G
|
rs2153406175
|
|
NM_000744.7(CHRNA4):c.639_640inv (p.Ala214Thr)
|
|
|
NM_000760.4(CSF3R):c.1931G>A (p.Gly644Glu)
|
|
|
NM_000834.5(GRIN2B):c.411+4A>C
|
|
|
NM_001004320.2(AGMO):c.1263+1dup
|
rs780799912
|
|
NM_001005273.3(CHD3):c.812G>T (p.Arg271Leu)
|
rs746970749
|
|
NM_001008216.2(GALE):c.889G>A (p.Val297Met)
|
|
|
NM_001017995.3(SH3PXD2B):c.2626_2629del (p.Phe876fs)
|
rs551498843
|
|
NM_001029883.3(PCARE):c.2938C>T (p.Pro980Ser)
|
rs2148415249
|
|
NM_001031679.3(MSRB3):c.-51-1502G>A
|
rs2136420609
|
|
NM_001035.3(RYR2):c.13901T>C (p.Val4634Ala)
|
rs1384324063
|
|
NM_001036.6(RYR3):c.12742A>G (p.Met4248Val)
|
rs771512839
|
|
NM_001039141.3(TRIOBP):c.1685C>G (p.Ser562Cys)
|
rs747588173
|
|
NM_001039141.3(TRIOBP):c.5422A>G (p.Lys1808Glu)
|
rs2145866277
|
|
NM_001040272.6(ADAMTSL1):c.2902G>A (p.Val968Met)
|
rs1446307679
|
|
NM_001046.3(SLC12A2):c.80_103del (p.Leu27_Leu34del)
|
|
|
NM_001048166.1(STIL):c.2452A>G (p.Thr818Ala)
|
rs1279650779
|
|
NM_001080517.3(SETD5):c.358C>T (p.Leu120Phe)
|
rs2125100487
|
|
NM_001085.5(SERPINA3):c.927_928insTTCTA (p.Glu310delinsPheTer)
|
rs2139965322
|
|
NM_001114748.2(TMEM240):c.457G>A (p.Gly153Arg)
|
|
|
NM_001122630.2(CDKN1C):c.842C>T (p.Pro281Leu)
|
|
|
NM_001126108.2(SLC12A3):c.322C>T (p.Arg108Trp)
|
rs541789117
|
|
NM_001128840.3(CACNA1D):c.4792+3C>T
|
|
|
NM_001130438.3(SPTAN1):c.5725G>A (p.Ala1909Thr)
|
|
|
NM_001130987.2(DYSF):c.5056C>T (p.Leu1686Phe)
|
|
|
NM_001134831.2(AHI1):c.2988del (p.Val997fs)
|
rs755246809
|
|
NM_001139.3(ALOX12B):c.944T>C (p.Leu315Pro)
|
rs1977160529
|
|
NM_001144967.3(NEDD4L):c.23C>T (p.Pro8Leu)
|
rs375577826
|
|
NM_001144967.3(NEDD4L):c.847G>C (p.Ala283Pro)
|
rs1408580789
|
|
NM_001145809.2(MYH14):c.6101A>C (p.His2034Pro)
|
rs1215273187
|
|
NM_001170535.3(ATAD3A):c.1045C>G (p.Leu349Val)
|
rs372111873
|
|
NM_001195.5(BFSP1):c.1438G>T (p.Val480Leu)
|
rs767136257
|
|
NM_001195518.2(MICU1):c.330+3A>G
|
|
|
NM_001197104.2(KMT2A):c.172C>G (p.Pro58Ala)
|
rs1217431375
|
|
NM_001253852.3(AP4B1):c.1494G>C (p.Leu498Phe)
|
rs1440975141
|
|
NM_001258329.1(EPB41L1):c.-15+11729G>A
|
rs2147709505
|
|
NM_001267550.2(TTN):c.10684G>A (p.Ala3562Thr)
|
rs2154335125
|
|
NM_001267550.2(TTN):c.29725C>A (p.Gln9909Lys)
|
|
|
NM_001267550.2(TTN):c.29978G>A (p.Arg9993Gln)
|
rs575360239
|
|
NM_001267550.2(TTN):c.57899C>A (p.Thr19300Asn)
|
rs979451740
|
|
NM_001278716.2(FBXL4):c.1784G>C (p.Cys595Ser)
|
rs2128374842
|
|
NM_001282531.3(ADNP):c.2749C>G (p.Pro917Ala)
|
rs142988030
|
|
NM_001282874.2(SMARCA1):c.916C>T (p.Arg306Ter)
|
|
|
NM_001348768.2(HECW2):c.206C>T (p.Thr69Met)
|
|
|
NM_001352027.3(PHF21A):c.467T>C (p.Ile156Thr)
|
rs2136079893
|
|
NM_001363.5(DKC1):c.1429AAG[1] (p.Lys478del)
|
rs2148517599
|
|
NM_001370466.1(NOD2):c.2641G>C (p.Gly881Arg)
|
rs2066845
|
|
NM_001371727.1(GABRB2):c.1334G>T (p.Gly445Val)
|
|
|
NM_001371928.1(AHDC1):c.1926G>C (p.Glu642Asp)
|
rs761320400
|
|
NM_001372066.1(TFAP2A):c.581C>T (p.Ala194Val)
|
rs2114014890
|
|
NM_001374504.1(TMPRSS6):c.1842-31CCCCA[2]
|
rs60484081
|
|
NM_001374736.1(DST):c.16607A>C (p.Lys5536Thr)
|
rs766451991
|
|
NM_001376.5(DYNC1H1):c.11992C>T (p.Pro3998Ser)
|
rs2152596268
|
|
NM_001377405.1(ATXN7):c.2245dup (p.Thr749fs)
|
|
|
NM_001378457.1(DMXL2):c.5827_5841del (p.Asp1943_Ser1947del)
|
rs606231461
|
|
NM_001384125.1(BLTP1):c.148C>T (p.Arg50Trp)
|
rs1735635931
|
|
NM_001384140.1(PCDH15):c.4672-1712_4672-1710del
|
rs2132368553
|
|
NM_001384474.1(LOXHD1):c.3712G>A (p.Asp1238Asn)
|
rs2144370861
|
|
NM_001385875.1(ZFYVE27):c.551+1G>A
|
|
|
NM_001388492.1(HTT):c.54GCA[22] (p.Gln36_Gln38dup)
|
rs71180116
|
|
NM_001394062.1(MACF1):c.15701A>C (p.Tyr5234Ser)
|
|
|
NM_001429.4(EP300):c.4453G>T (p.Asp1485Tyr)
|
rs2145769934
|
|
NM_001447.3(FAT2):c.1521T>G (p.Ile507Met)
|
rs1758328376
|
|
NM_001447.3(FAT2):c.2891T>C (p.Leu964Pro)
|
|
|
NM_001567.4(INPPL1):c.2326+9C>T
|
rs370540380
|
|
NM_001605.3(AARS1):c.877A>T (p.Met293Leu)
|
|
|
NM_001631.5(ALPI):c.895C>T (p.Arg299Ter)
|
|
|
NM_001940.4(ATN1):c.1464GCA[12] (p.Gln500_Gln502del)
|
rs60216939
|
|
NM_002055.5(GFAP):c.253G>A (p.Glu85Lys)
|
|
|
NM_002334.4(LRP4):c.5504dup (p.Leu1836fs)
|
|
|
NM_002336.3(LRP6):c.4377dup (p.Tyr1460fs)
|
|
|
NM_002473.6(MYH9):c.1306G>A (p.Ala436Thr)
|
rs770360786
|
|
NM_002637.4(PHKA1):c.1282C>T (p.Arg428Cys)
|
rs2147757116
|
|
NM_002745.5(MAPK1):c.5CGG[8] (p.Ala7_Gly8insAlaAla)
|
|
|
NM_002860.4(ALDH18A1):c.1237G>C (p.Glu413Gln)
|
rs147348068
|
|
NM_002872.5(RAC2):c.328A>G (p.Ile110Val)
|
rs1248326902
|
|
NM_002900.3(RBP3):c.1733C>A (p.Thr578Lys)
|
rs782234227
|
|
NM_003072.5(SMARCA4):c.2014G>C (p.Glu672Gln)
|
rs2088394203
|
|
NM_003477.2(PDHX):c.-178T>C
|
rs2133931431
|
|
NM_003578.4(SOAT2):c.1017_1020del (p.Ile340fs)
|
rs757442410
|
|
NM_003661.4(APOL1):c.1048G>A (p.Val350Ile)
|
rs2146313032
|
|
NM_004327.4(BCR):c.3275_3278dup (p.Val1094fs)
|
rs372013175
|
|
NM_004369.4(COL6A3):c.7655T>A (p.Ile2552Asn)
|
|
|
NM_004369.4(COL6A3):c.8278C>G (p.Leu2760Val)
|
|
|
NM_004462.5(FDFT1):c.100-84TCCCAC[11]
|
rs71711801
|
|
NM_004530.6(MMP2):c.1013C>T (p.Ser338Phe)
|
rs1962350616
|
|
NM_004560.4(ROR2):c.362G>A (p.Arg121Gln)
|
rs1377209414
|
|
NM_004937.3(CTNS):c.1062C>A (p.Phe354Leu)
|
rs762508287
|
|
NM_004975.4(KCNB1):c.1883G>A (p.Gly628Glu)
|
|
|
NM_004999.4(MYO6):c.2898AGA[3] (p.Glu970del)
|
rs727504743
|
|
NM_005026.5(PIK3CD):c.1339+4G>A
|
rs751591906
|
|
NM_005029.4(PITX3):c.88G>A (p.Glu30Lys)
|
rs2133799119
|
|
NM_005045.4(RELN):c.6549A>C (p.Leu2183Phe)
|
|
|
NM_005045.4(RELN):c.669C>G (p.Asn223Lys)
|
rs773006128
|
|
NM_005523.6(HOXA11):c.679G>C (p.Gly227Arg)
|
|
|
NM_005534.4(IFNGR2):c.529G>A (p.Val177Ile)
|
|
|
NM_005591.4(MRE11):c.835G>C (p.Ala279Pro)
|
rs147383852
|
|
NM_005866.4(SIGMAR1):c.270G>A (p.Met90Ile)
|
|
|
NM_005904.4(SMAD7):c.625C>A (p.Pro209Thr)
|
rs551446649
|
|
NM_006005.3(WFS1):c.2601G>C (p.Trp867Cys)
|
rs2109127911
|
|
NM_006208.3(ENPP1):c.313+8_313+9insTTGTGT
|
rs879243445
|
|
NM_006440.5(TXNRD2):c.528+2T>C
|
rs775856560
|
|
NM_006514.4(SCN10A):c.4210T>G (p.Phe1404Val)
|
|
|
NM_006580.4(CLDN16):c.466C>A (p.Leu156Ile)
|
rs1170178042
|
|
NM_006612.6(KIF1C):c.3028A>G (p.Thr1010Ala)
|
|
|
NM_006612.6(KIF1C):c.3081C>A (p.His1027Gln)
|
rs752457302
|
|
NM_006736.6(DNAJB2):c.154G>A (p.Ala52Thr)
|
|
|
NM_006908.5(RAC1):c.23_35+12dup
|
rs2115177185
|
|
NM_007118.4(TRIO):c.157+3G>A
|
|
|
NM_007118.4(TRIO):c.8798A>G (p.Lys2933Arg)
|
|
|
NM_012120.3(CD2AP):c.1583C>T (p.Ala528Val)
|
|
|
NM_012179.4(FBXO7):c.674C>T (p.Pro225Leu)
|
rs112660869
|
|
NM_012216.4(MID2):c.373A>G (p.Thr125Ala)
|
rs1931331739
|
|
NM_013266.4(CTNNA3):c.2375T>C (p.Leu792Pro)
|
rs2133257020
|
|
NM_013275.6(ANKRD11):c.5357A>G (p.Asn1786Ser)
|
|
|
NM_013352.4(DSE):c.2482del (p.Gln828fs)
|
rs2115098611
|
|
NM_013391.3(DMGDH):c.696del (p.Glu233fs)
|
rs2112659102
|
|
NM_014159.7(SETD2):c.7346T>C (p.Met2449Thr)
|
rs559045162
|
|
NM_014297.5(ETHE1):c.205_210dup (p.Gly69_Leu70dup)
|
rs2146019590
|
|
NM_014491.4(FOXP2):c.1436A>T (p.His479Leu)
|
|
|
NM_014624.4(S100A6):c.181del (p.Asp61fs)
|
rs2101678002
|
|
NM_014704.4(CEP104):c.485A>G (p.Asn162Ser)
|
rs867268929
|
|
NM_014956.5(CEP164):c.717G>C (p.Arg239Ser)
|
rs1335434297
|
|
NM_015021.3(ZNF292):c.6758_6760del (p.Asp2253del)
|
rs1775501579
|
|
NM_015087.5(SPART):c.1643G>A (p.Gly548Glu)
|
|
|
NM_015340.4(LARS2):c.2285C>A (p.Ala762Asp)
|
rs868411376
|
|
NM_015346.4(ZFYVE26):c.1293T>A (p.Asp431Glu)
|
rs747236724
|
|
NM_015346.4(ZFYVE26):c.1838T>G (p.Leu613Trp)
|
rs758520387
|
|
NM_015404.4(WHRN):c.919A>G (p.Thr307Ala)
|
rs2132955317
|
|
NM_015512.5(DNAH1):c.12089+9C>T
|
|
|
NM_015512.5(DNAH1):c.3595G>A (p.Asp1199Asn)
|
|
|
NM_015527.4(TBC1D10B):c.1773G>A (p.Met591Ile)
|
rs2151100398
|
|
NM_015599.3(PGM3):c.1094T>C (p.Ile365Thr)
|
|
|
NM_016239.4(MYO15A):c.3620T>C (p.Ile1207Thr)
|
rs1365097671
|
|
NM_016252.4(BIRC6):c.7591T>G (p.Tyr2531Asp)
|
|
|
NM_016327.3(UPB1):c.5C>G (p.Ala2Gly)
|
rs764932232
|
|
NM_017654.4(SAMD9):c.3059C>T (p.Thr1020Ile)
|
rs1039989488
|
|
NM_018359.5(UFSP2):c.1376A>C (p.Asn459Thr)
|
|
|
NM_018946.4(NANS):c.452G>A (p.Arg151His)
|
rs140402727
|
|
NM_020131.5(UBQLN4):c.931G>A (p.Gly311Arg)
|
rs2102746827
|
|
NM_020859.4(SHROOM3):c.4204G>T (p.Gly1402Cys)
|
rs749960760
|
|
NM_020884.7(MYH7B):c.198+1G>T
|
rs375392993
|
|
NM_021224.6(ZNF462):c.5456C>G (p.Thr1819Arg)
|
rs779356446
|
|
NM_021942.6(TRAPPC11):c.161A>G (p.Lys54Arg)
|
rs1734710360
|
|
NM_021942.6(TRAPPC11):c.2234C>T (p.Thr745Ile)
|
rs768000138
|
|
NM_022089.4(ATP13A2):c.1649C>A (p.Pro550His)
|
rs1379076892
|
|
NM_022168.4(IFIH1):c.1764del (p.Ala589fs)
|
rs553669430
|
|
NM_022168.4(IFIH1):c.769+3A>G
|
rs769979161
|
|
NM_022168.4(IFIH1):c.875-1G>C
|
rs1682933667
|
|
NM_024301.5(FKRP):c.649C>A (p.Pro217Thr)
|
rs2122620422
|
|
NM_024422.6(DSC2):c.607C>T (p.Arg203Cys)
|
rs142331975
|
|
NM_024580.6(EFL1):c.2902G>T (p.Ala968Ser)
|
rs377682013
|
|
NM_024884.3(L2HGDH):c.41G>A (p.Arg14Gln)
|
rs776223095
|
|
NM_025137.4(SPG11):c.1735+4A>G
|
rs2141056546
|
|
NM_025137.4(SPG11):c.1906C>G (p.Leu636Val)
|
rs145316065
|
|
NM_030662.4(MAP2K2):c.520A>G (p.Ser174Gly)
|
|
|
NM_030665.4(RAI1):c.2589G>C (p.Glu863Asp)
|
|
|
NM_030787.4(CFHR5):c.486dup (p.Glu163fs)
|
rs565457964
|
|
NM_032119.4(ADGRV1):c.514A>T (p.Ile172Phe)
|
rs2152065480
|
|
NM_032776.3(JMJD1C):c.803A>T (p.Gln268Leu)
|
rs757837342
|
|
NM_033004.4(NLRP1):c.1733G>T (p.Gly578Val)
|
rs763921064
|
|
NM_133261.3(GIPC3):c.680G>A (p.Gly227Glu)
|
rs756451615
|
|
NM_133642.5(LARGE1):c.500C>G (p.Pro167Arg)
|
|
|
NM_138713.4(NFAT5):c.3145A>G (p.Met1049Val)
|
|
|
NM_138927.4(SON):c.5943_5963del (p.1957SRTPSRR[5])
|
rs766784590
|
|
NM_138959.3(VANGL1):c.497G>A (p.Gly166Glu)
|
rs1652670247
|
|
NM_144499.3(GNAT1):c.450-11G>T
|
rs2109139018
|
|
NM_144670.6(A2ML1):c.3701del (p.Gly1234fs)
|
|
|
NM_144687.4(NLRP12):c.2619T>G (p.Cys873Trp)
|
|
|
NM_145239.3(PRRT2):c.745T>C (p.Ser249Pro)
|
rs944092875
|
|
NM_145239.3(PRRT2):c.891C>G (p.Ser297Arg)
|
rs1900136032
|
|
NM_147188.3(FBXO22):c.159_162del (p.Arg53fs)
|
rs2141698833
|
|
NM_148919.4(PSMB8):c.544G>A (p.Gly182Arg)
|
rs1769920763
|
|
NM_152259.4(TICRR):c.4237A>C (p.Ser1413Arg)
|
rs1963480723
|
|
NM_153046.3(TDRD9):c.2106+2T>A
|
rs2152222013
|
|
NM_170606.3(KMT2C):c.1013-2A>G
|
rs751158858
|
|
NM_170606.3(KMT2C):c.3466G>A (p.Val1156Ile)
|
|
|
NM_170707.4(LMNA):c.112C>T (p.Leu38Phe)
|
rs2102817550
|
|
NM_173354.5(SIK1):c.2126T>C (p.Leu709Pro)
|
|
|
NM_177550.5(SLC13A5):c.1178C>T (p.Pro393Leu)
|
rs1973458109
|
|
NM_178012.5(TUBB2B):c.743C>T (p.Ala248Val)
|
rs777598117
|
|
NM_178172.6(GPIHBP1):c.523G>C (p.Gly175Arg)
|
rs145844329
|
|
NM_182961.4(SYNE1):c.13391A>G (p.Gln4464Arg)
|
rs2153973584
|
|
NM_182961.4(SYNE1):c.13861A>G (p.Thr4621Ala)
|
|
|
NM_182961.4(SYNE1):c.17603G>A (p.Gly5868Glu)
|
rs2153809671
|
|
NM_182961.4(SYNE1):c.5369C>T (p.Thr1790Ile)
|
rs1554666956
|
|
NM_182977.3(NNT):c.188A>T (p.Lys63Ile)
|
|
|
NM_198407.2(GHSR):c.422G>T (p.Arg141Leu)
|
rs199698243
|
|
NM_198525.3(KIF7):c.401A>G (p.Asn134Ser)
|
rs922869195
|
|
NM_199242.3(UNC13D):c.1820G>A (p.Arg607Gln)
|
|
|
NM_201253.3(CRB1):c.2573A>G (p.Asn858Ser)
|
rs2125485150
|
|
NM_203446.3(SYNJ1):c.85G>A (p.Glu29Lys)
|
|
|