NM_016335.6(PRODH):c.1562= (p.Arg521=)
|
rs450046
|
0.99713
|
NM_005957.5(MTHFR):c.665C>T (p.Ala222Val)
|
rs1801133
|
0.27446
|
NM_003126.4(SPTA1):c.5572C>G (p.Leu1858Val)
|
rs3737515
|
0.25425
|
NM_000335.5(SCN5A):c.1673A>G (p.His558Arg)
|
rs1805124
|
0.24768
|
NM_000372.5(TYR):c.575C>A (p.Ser192Tyr)
|
rs1042602
|
0.24593
|
NM_006269.2(RP1):c.5008G>A (p.Ala1670Thr)
|
rs446227
|
0.21425
|
NM_000017.4(ACADS):c.625G>A (p.Gly209Ser)
|
rs1799958
|
0.20617
|
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln)
|
rs1126809
|
0.18094
|
NM_001011551.3(C1GALT1C1):c.393T>A (p.Asp131Glu)
|
rs17261572
|
0.15825
|
NM_000155.4(GALT):c.940A>G (p.Asn314Asp)
|
rs2070074
|
0.07150
|
NM_016335.6(PRODH):c.1292G>A (p.Arg431His)
|
rs2904552
|
0.06735
|
NM_003661.4(APOL1):c.1152T>G (p.Ile384Met)
|
rs60910145
|
0.06710
|
NM_000031.6(ALAD):c.177G>C (p.Lys59Asn)
|
rs1800435
|
0.05916
|
NM_000135.4(FANCA):c.3982A>G (p.Thr1328Ala)
|
rs9282681
|
0.05868
|
NM_000482.4(APOA4):c.1140G>T (p.Gln380His)
|
rs5110
|
0.05327
|
NM_000135.4(FANCA):c.3263C>T (p.Ser1088Phe)
|
rs17233497
|
0.05303
|
NM_000342.4(SLC4A1):c.166A>G (p.Lys56Glu)
|
rs5036
|
0.05002
|
NM_001195129.2(PRSS56):c.1795C>G (p.Pro599Ala)
|
rs61744404
|
0.04318
|
NM_001042475.3(CEP85L):c.1020+17269T>G
|
rs77186188
|
0.04176
|
NM_003356.4(UCP3):c.304G>A (p.Val102Ile)
|
rs2229707
|
0.03989
|
NM_003126.4(SPTA1):c.2909C>A (p.Ala970Asp)
|
rs35948326
|
0.03419
|
NM_000017.4(ACADS):c.511C>T (p.Arg171Trp)
|
rs1800556
|
0.03280
|
NM_024649.5(BBS1):c.700G>A (p.Glu234Lys)
|
rs35520756
|
0.03206
|
NM_003331.5(TYK2):c.3310C>G (p.Pro1104Ala)
|
rs34536443
|
0.02850
|
NM_000067.3(CA2):c.754A>G (p.Asn252Asp)
|
rs2228063
|
0.02817
|
NM_000335.5(SCN5A):c.3305C>A (p.Ser1102Tyr)
|
rs7626962
|
0.02208
|
NM_000096.4(CP):c.1652C>T (p.Thr551Ile)
|
rs61733458
|
0.02154
|
NM_012099.3(POLR1G):c.844A>G (p.Thr282Ala)
|
rs3212989
|
0.02148
|
NM_000348.4(SRD5A2):c.145G>A (p.Ala49Thr)
|
rs9282858
|
0.02117
|
NM_001040108.2(MLH3):c.2221G>T (p.Val741Phe)
|
rs28756990
|
0.02049
|
NM_000237.3(LPL):c.106G>A (p.Asp36Asn)
|
rs1801177
|
0.01951
|
NM_016335.6(PRODH):c.1357C>T (p.Arg453Cys)
|
rs3970559
|
0.01765
|
NM_016616.4(NME8):c.271-27C>T
|
rs117149381
|
0.01739
|
NM_000187.4(HGD):c.1221G>A (p.Ala407=)
|
rs146206905
|
0.01639
|
NM_005912.3(MC4R):c.307G>A (p.Val103Ile)
|
rs2229616
|
0.01533
|
NM_000520.6(HEXA):c.672+30T>G
|
rs117160567
|
0.01494
|
NM_000202.8(IDS):c.641C>T (p.Thr214Met)
|
rs61736892
|
0.01492
|
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu)
|
rs41272687
|
0.01478
|
NM_004360.5(CDH1):c.1849G>A (p.Ala617Thr)
|
rs33935154
|
0.01412
|
NM_000055.2(BCHE):c.293A>G (p.Asp98Gly)
|
rs1799807
|
0.01259
|
NM_001065.4(TNFRSF1A):c.362G>A (p.Arg121Gln)
|
rs4149584
|
0.01206
|
NM_000070.3(CAPN3):c.2332G>A (p.Asp778Asn)
|
rs115311625
|
0.00908
|
NM_017570.5(OPLAH):c.3265G>A (p.Val1089Ile)
|
rs185836803
|
0.00867
|
NM_015627.3(LDLRAP1):c.653C>T (p.Thr218Ile)
|
rs114583297
|
0.00817
|
NM_000483.5(APOC2):c.229A>C (p.Lys77Gln)
|
rs5126
|
0.00784
|
NM_000284.4(PDHA1):c.844A>C (p.Met282Leu)
|
rs2229137
|
0.00715
|
NM_000035.4(ALDOB):c.-214G>A
|
rs185972191
|
0.00678
|
NM_000489.6(ATRX):c.5579A>G (p.Asn1860Ser)
|
rs45439799
|
0.00663
|
NM_016233.2(PADI3):c.881C>T (p.Ala294Val)
|
rs144080386
|
0.00620
|
NM_016239.4(MYO15A):c.6614C>T (p.Thr2205Ile)
|
rs121908970
|
0.00599
|
NM_001008216.2(GALE):c.770A>G (p.Lys257Arg)
|
rs28940884
|
0.00596
|
NM_000038.6(APC):c.3949G>C (p.Glu1317Gln)
|
rs1801166
|
0.00570
|
NM_000135.4(FANCA):c.2574C>G (p.Ser858Arg)
|
rs17233141
|
0.00567
|
NM_000275.3(OCA2):c.79G>A (p.Gly27Arg)
|
rs61738394
|
0.00532
|
NM_005609.4(PYGM):c.645G>A (p.Lys215=)
|
rs116315896
|
0.00530
|
NM_001193313.2(SUGCT):c.985C>T (p.Arg329Trp)
|
rs137852860
|
0.00490
|
NR_001566.1(TERC):n.228G>A
|
rs141686314
|
0.00478
|
NM_001377.3(DYNC2H1):c.3097-4A>G
|
rs368802969
|
0.00476
|
NM_017721.5(CC2D1A):c.1739C>T (p.Thr580Ile)
|
rs202057391
|
0.00476
|
NM_016335.6(PRODH):c.865T>A (p.Leu289Met)
|
rs137852934
|
0.00464
|
NM_001106.4(ACVR2B):c.119G>A (p.Arg40His)
|
rs121434437
|
0.00398
|
NM_001098.3(ACO2):c.220C>G (p.Leu74Val)
|
rs141772938
|
0.00383
|
NM_005267.5(GJA8):c.741T>G (p.Ile247Met)
|
rs80358202
|
0.00365
|
NM_000135.4(FANCA):c.4249C>G (p.His1417Asp)
|
rs17227403
|
0.00362
|
NM_000492.4(CFTR):c.220C>T (p.Arg74Trp)
|
rs115545701
|
0.00350
|
NM_000492.4(CFTR):c.3808G>A (p.Asp1270Asn)
|
rs11971167
|
0.00338
|
NM_000492.4(CFTR):c.650A>G (p.Glu217Gly)
|
rs121909046
|
0.00335
|
NM_032578.4(MYPN):c.3335C>T (p.Pro1112Leu)
|
rs71534278
|
0.00318
|
NM_001399.5(EDA):c.206G>T (p.Arg69Leu)
|
rs132630309
|
0.00312
|
NM_012082.4(ZFPM2):c.1632G>A (p.Met544Ile)
|
rs187043152
|
0.00306
|
NM_020361.5(CPA6):c.809C>T (p.Ala270Val)
|
rs114402678
|
0.00300
|
NM_000939.4(POMC):c.706C>G (p.Arg236Gly)
|
rs28932472
|
0.00286
|
NM_000342.4(SLC4A1):c.2561C>T (p.Pro854Leu)
|
rs2285644
|
0.00284
|
NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser)
|
rs139235751
|
0.00230
|
NM_000483.5(APOC2):c.178G>A (p.Glu60Lys)
|
rs5122
|
0.00229
|
NM_001063.4(TF):c.956A>G (p.His319Arg)
|
rs41295774
|
0.00224
|
NM_005413.4(SIX3):c.109G>T (p.Gly37Cys)
|
rs199823175
|
0.00210
|
NM_002485.5(NBN):c.643C>T (p.Arg215Trp)
|
rs34767364
|
0.00206
|
NM_001001557.4(GDF6):c.746C>A (p.Ala249Glu)
|
rs121909352
|
0.00200
|
NM_000193.4(SHH):c.869G>A (p.Gly290Asp)
|
rs104894047
|
0.00191
|
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe)
|
rs77724903
|
0.00178
|
NM_006172.4(NPPA):c.190A>C (p.Ser64Arg)
|
rs61757261
|
0.00165
|
NM_000463.3(UGT1A1):c.141C>T (p.Ile47=)
|
rs34526305
|
0.00154
|
NM_000094.4(COL7A1):c.4373C>T (p.Pro1458Leu)
|
rs79378857
|
0.00150
|
NM_001379200.1(TBX1):c.955G>A (p.Gly319Ser)
|
rs41298838
|
0.00148
|
NM_016729.3(FOLR1):c.493+2T>C
|
rs144637717
|
0.00134
|
NM_000282.4(PCCA):c.1676G>T (p.Trp559Leu)
|
rs118169528
|
0.00088
|
NM_000354.5(SERPINA7):c.631G>A (p.Ala211Thr)
|
rs2234036
|
0.00076
|
NM_012452.3(TNFRSF13B):c.605G>A (p.Arg202His)
|
rs104894649
|
0.00076
|
NM_199161.5(SAA1):c.269G>A (p.Gly90Asp)
|
rs79681911
|
0.00076
|
NM_001371279.1(REEP1):c.837G>T (p.Ser279=)
|
rs377637314
|
0.00068
|
NM_005505.5(SCARB1):c.1127C>T (p.Pro376Leu)
|
rs74830677
|
0.00068
|
NM_198578.4(LRRK2):c.7153G>A (p.Gly2385Arg)
|
rs34778348
|
0.00058
|
NM_001032386.2(SUOX):c.228G>T (p.Arg76Ser)
|
rs202085145
|
0.00057
|
NM_000135.4(FANCA):c.4036G>A (p.Ala1346Thr)
|
rs17227396
|
0.00056
|
NM_000350.3(ABCA4):c.6730-19G>A
|
rs375179475
|
0.00052
|
NM_000342.4(SLC4A1):c.2603C>T (p.Pro868Leu)
|
rs121912759
|
0.00051
|
NM_001211.6(BUB1B):c.1649G>A (p.Arg550Gln)
|
rs28989187
|
0.00049
|
NM_002887.4(RARS1):c.1367C>T (p.Ser456Leu)
|
rs139644798
|
0.00044
|
NM_000371.4(TTR):c.328C>A (p.His110Asn)
|
rs121918074
|
0.00040
|
NM_000492.4(CFTR):c.1865G>A (p.Gly622Asp)
|
rs121908759
|
0.00039
|
NM_024009.3(GJB3):c.580G>A (p.Ala194Thr)
|
rs117385606
|
0.00039
|
NM_000216.4(ANOS1):c.1187C>T (p.Ser396Leu)
|
rs137852517
|
0.00038
|
NM_002693.3(POLG):c.2890C>T (p.Arg964Cys)
|
rs201477273
|
0.00033
|
NM_000036.3(AMPD1):c.1274G>A (p.Arg425His)
|
rs121912682
|
0.00031
|
NM_005912.3(MC4R):c.523G>A (p.Ala175Thr)
|
rs121913563
|
0.00031
|
NM_000187.4(HGD):c.221A>T (p.Glu74Val)
|
rs141965690
|
0.00027
|
NM_000290.4(PGAM2):c.290G>A (p.Gly97Asp)
|
rs77938727
|
0.00026
|
NM_000261.2(MYOC):c.136C>T (p.Arg46Ter)
|
rs74315337
|
0.00024
|
NM_002769.5(PRSS1):c.623G>C (p.Gly208Ala)
|
rs189270875
|
0.00024
|
NM_007272.3(CTRC):c.703G>A (p.Val235Ile)
|
rs140993290
|
0.00024
|
NM_018055.5(NODAL):c.548G>A (p.Arg183Gln)
|
rs104894169
|
0.00023
|
NM_000371.4(TTR):c.371G>A (p.Arg124His)
|
rs121918095
|
0.00019
|
NM_001110792.2(MECP2):c.1318G>A (p.Gly440Ser)
|
rs61753971
|
0.00011
|
NM_005912.3(MC4R):c.806T>A (p.Ile269Asn)
|
rs79783591
|
0.00011
|
NM_173551.5(ANKS6):c.1322A>G (p.Gln441Arg)
|
rs377750405
|
0.00006
|
NM_000492.4(CFTR):c.3469-20T>C
|
rs373002889
|
0.00005
|
NM_000531.6(OTC):c.148G>A (p.Gly50Arg)
|
rs67486158
|
0.00005
|
NM_013444.4(UBQLN2):c.1573C>T (p.Pro525Ser)
|
rs369947678
|
0.00005
|
NM_016239.4(MYO15A):c.5925G>A (p.Trp1975Ter)
|
rs375290498
|
0.00005
|
NM_001110792.2(MECP2):c.414-3C>T
|
rs267608465
|
0.00003
|
NM_000092.5(COL4A4):c.1441G>A (p.Gly481Ser)
|
rs181528936
|
0.00001
|
NM_000261.2(MYOC):c.144G>T (p.Gln48His)
|
rs74315339
|
0.00001
|
NM_000094.4(COL7A1):c.8524_8527+10del
|
rs566181351
|
|
NM_000135.4(FANCA):c.710-142_710-141dup
|
rs17232344
|
|
NM_000233.4(LHCGR):c.50_55dup (p.Leu17_Gln18dup)
|
rs71245621
|
|
NM_000314.8(PTEN):c.210-7_210-3del
|
rs587780544
|
|
NM_000341.4(SLC3A1):c.1854G>A (p.Met618Ile)
|
rs698761
|
|
NM_000350.3(ABCA4):c.618C>G (p.Ser206Arg)
|
rs61748536
|
|
NM_000433.4(NCF2):c.1183C>T (p.Arg395Trp)
|
rs13306575
|
|
NM_000492.4(CFTR):c.1210-15_1210-10del
|
rs2115902212
|
|
NM_000492.4(CFTR):c.4056G>C (p.Gln1352His)
|
rs113857788
|
|
NM_000527.5(LDLR):c.1024G>A (p.Asp342Asn)
|
|
|
NM_000527.5(LDLR):c.970G>A (p.Gly324Ser)
|
|
|
NM_000892.5(KLKB1):c.451dup (p.Ser151fs)
|
rs560588447
|
|
NM_001167.4(XIAP):c.1045GAG[1] (p.Glu350del)
|
rs199683465
|
|
NM_001194.4(HCN2):c.2144CGC[4] (p.Pro719_Pro721del)
|
rs527536363
|
|
NM_001429.4(EP300):c.6798_6800del (p.Gln2268del)
|
rs533875300
|
|
NM_002769.4(PRSS1):c.-30_-28delTCC
|
rs386134264
|
|
NM_002769.5(PRSS1):c.161A>G (p.Asn54Ser)
|
rs144422014
|
|
NM_003482.4(KMT2D):c.4163G>T (p.Arg1388Leu)
|
rs202217665
|
|
NM_004380.3(CREBBP):c.2728A>G (p.Thr910Ala)
|
rs143247685
|
|
NM_005210.4(CRYGB):c.10-38del
|
rs3214759
|
|
NM_014000.3(VCL):c.2862_2864del (p.Leu955del)
|
rs397517237
|
|
NM_014336.5(AIPL1):c.1053_1064del (p.Ala352_Pro355del)
|
rs281865195
|
|
NM_022124.6(CDH23):c.4104+15del
|
rs1839422034
|
|
NM_024589.3(ROGDI):c.45+37_46-30del
|
rs786205125
|
|
NM_033409.4(SLC52A3):c.568-16_568-15insCTGATTGAC
|
rs3833341
|
|
NM_170606.3(KMT2C):c.6339A>C (p.Ser2113=)
|
rs73161892
|
|
NM_174936.4(PCSK9):c.158C>T (p.Ala53Val)
|
|
|
NM_198578.4(LRRK2):c.4883G>C (p.Arg1628Pro)
|
rs33949390
|
|