NM_000150.4(FUT6):c.739G>A (p.Glu247Lys)
|
rs17855739
|
0.11967
|
NM_001365536.1(SCN9A):c.3004G>T (p.Val1002Leu)
|
rs4369876
|
0.01322
|
NM_000150.4(FUT6):c.945C>A (p.Tyr315Ter)
|
rs145035679
|
0.00631
|
NM_002016.2(FLG):c.5717C>A (p.Ser1906Ter)
|
rs141784184
|
0.00584
|
NM_001032283.3(TMPO):c.565+2487C>T
|
rs17028450
|
0.00576
|
NM_001009944.3(PKD1):c.4051C>T (p.Arg1351Trp)
|
rs55840049
|
0.00551
|
NM_000336.3(SCNN1B):c.245C>G (p.Ser82Cys)
|
rs35731153
|
0.00463
|
NM_000492.4(CFTR):c.650A>G (p.Glu217Gly)
|
rs121909046
|
0.00335
|
NM_001110556.2(FLNA):c.1582G>A (p.Val528Met)
|
rs143873938
|
0.00313
|
NM_000178.4(GSS):c.941C>T (p.Pro314Leu)
|
rs75863437
|
0.00292
|
NM_001692.4(ATP6V1B1):c.1394G>A (p.Arg465His)
|
rs142905621
|
0.00275
|
NM_000170.3(GLDC):c.1229G>A (p.Arg410Lys)
|
rs144090917
|
0.00234
|
NM_000053.4(ATP7B):c.3889G>A (p.Val1297Ile)
|
rs148399850
|
0.00192
|
NM_000256.3(MYBPC3):c.1519G>A (p.Gly507Arg)
|
rs35736435
|
0.00177
|
NM_001486.4(GCKR):c.307G>A (p.Val103Met)
|
rs146175795
|
0.00151
|
NM_016203.4(PRKAG2):c.298G>A (p.Gly100Ser)
|
rs79474211
|
0.00144
|
NM_032578.4(MYPN):c.3481C>A (p.Leu1161Ile)
|
rs138313730
|
0.00123
|
NM_033380.3(COL4A5):c.2858G>T (p.Gly953Val)
|
rs78972735
|
0.00119
|
NM_000505.4(F12):c.1027G>C (p.Ala343Pro)
|
rs183643295
|
0.00115
|
NM_025216.3(WNT10A):c.511C>T (p.Arg171Cys)
|
rs116998555
|
0.00113
|
NM_002386.4(MC1R):c.359T>C (p.Ile120Thr)
|
rs33932559
|
0.00103
|
NM_001008212.2(OPTN):c.1634G>A (p.Arg545Gln)
|
rs75654767
|
0.00101
|
NM_001005242.3(PKP2):c.156G>A (p.Lys52=)
|
rs201210997
|
0.00092
|
NM_000277.3(PAH):c.158G>A (p.Arg53His)
|
rs118092776
|
0.00091
|
NM_000282.4(PCCA):c.1676G>T (p.Trp559Leu)
|
rs118169528
|
0.00088
|
NM_001081.4(CUBN):c.1951C>G (p.Arg651Gly)
|
rs182512508
|
0.00086
|
NM_006420.3(ARFGEF2):c.625G>A (p.Glu209Lys)
|
rs28937880
|
0.00079
|
NM_139319.3(SLC17A8):c.1120G>T (p.Ala374Ser)
|
rs138307707
|
0.00078
|
NM_000354.5(SERPINA7):c.631G>A (p.Ala211Thr)
|
rs2234036
|
0.00076
|
NM_016327.3(UPB1):c.977G>A (p.Arg326Gln)
|
rs118163237
|
0.00074
|
NM_025216.3(WNT10A):c.637G>A (p.Gly213Ser)
|
rs147680216
|
0.00071
|
NM_052872.4(IL17F):c.254+1G>T
|
rs117796773
|
0.00070
|
NM_001486.4(GCKR):c.230A>G (p.Glu77Gly)
|
rs8179206
|
0.00069
|
NM_000475.5(NR0B1):c.376G>A (p.Val126Met)
|
rs193205940
|
0.00068
|
NM_000492.4(CFTR):c.2735C>T (p.Ser912Leu)
|
rs121909034
|
0.00068
|
NM_004646.4(NPHS1):c.1339G>A (p.Glu447Lys)
|
rs28939695
|
0.00067
|
NM_006348.5(COG5):c.1826T>C (p.Ile609Thr)
|
rs142433421
|
0.00063
|
NM_000511.6(FUT2):c.604C>T (p.Arg202Ter)
|
rs1800028
|
0.00057
|
NM_178857.6(RP1L1):c.324_325insT (p.Pro109fs)
|
rs138816053
|
0.00057
|
NM_018451.5(CENPJ):c.2462C>T (p.Thr821Met)
|
rs144938364
|
0.00056
|
NM_020975.6(RET):c.833C>A (p.Thr278Asn)
|
rs35118262
|
0.00056
|
NM_014625.4(NPHS2):c.413G>A (p.Arg138Gln)
|
rs74315342
|
0.00054
|
NM_206933.4(USH2A):c.7068T>G (p.Asn2356Lys)
|
rs200038092
|
0.00051
|
NM_001194998.2(CEP152):c.2034T>G (p.Tyr678Ter)
|
rs182018947
|
0.00048
|
NM_002016.2(FLG):c.12064A>T (p.Lys4022Ter)
|
rs146466242
|
0.00045
|
NM_001048174.2(MUTYH):c.11C>T (p.Pro4Leu)
|
rs79777494
|
0.00044
|
NM_001048174.2(MUTYH):c.32G>A (p.Gly11Asp)
|
rs75321043
|
0.00044
|
NM_004646.4(NPHS1):c.2869G>C (p.Val957Leu)
|
rs114849139
|
0.00044
|
NM_133497.4(KCNV2):c.80G>A (p.Arg27His)
|
rs145731729
|
0.00044
|
NM_000226.4(KRT9):c.1216T>C (p.Cys406Arg)
|
rs77688767
|
0.00043
|
NM_001122659.3(EDNRB):c.-26G>A
|
rs2070591
|
0.00043
|
NM_000251.3(MSH2):c.1886A>G (p.Gln629Arg)
|
rs61756468
|
0.00042
|
NM_016953.4(PDE11A):c.985C>T (p.Arg329Ter)
|
rs188985665
|
0.00042
|
NM_199242.3(UNC13D):c.1228A>C (p.Ile410Leu)
|
rs117221419
|
0.00040
|
NM_032119.4(ADGRV1):c.6559A>G (p.Ile2187Val)
|
rs200512504
|
0.00037
|
NM_000301.5(PLG):c.1858G>A (p.Ala620Thr)
|
rs121918027
|
0.00036
|
NM_001048174.2(MUTYH):c.850-2A>G
|
rs77542170
|
0.00035
|
NM_017534.6(MYH2):c.2414T>C (p.Val805Ala)
|
rs200662973
|
0.00034
|
NM_033028.5(BBS4):c.1414A>G (p.Met472Val)
|
rs2277596
|
0.00034
|
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_194248.3(OTOF):c.4023+1G>A
|
rs186810296
|
0.00031
|
NM_000444.6(PHEX):c.10G>C (p.Glu4Gln)
|
rs147859619
|
0.00030
|
NM_000368.5(TSC1):c.1960C>G (p.Gln654Glu)
|
rs75820036
|
0.00029
|
NM_020975.6(RET):c.341G>A (p.Arg114His)
|
rs76397662
|
0.00029
|
NM_006502.3(POLH):c.1603A>G (p.Lys535Glu)
|
rs56307355
|
0.00028
|
NM_000290.4(PGAM2):c.290G>A (p.Gly97Asp)
|
rs77938727
|
0.00026
|
NM_004415.4(DSP):c.7916G>A (p.Arg2639Gln)
|
rs116888866
|
0.00026
|
NM_144573.4(NEXN):c.835C>T (p.Arg279Cys)
|
rs146245480
|
0.00025
|
NM_175914.5(HNF4A):c.439G>A (p.Val147Ile)
|
rs142204928
|
0.00025
|
NM_001363711.2(DUOX2):c.1462G>A (p.Gly488Arg)
|
rs191759494
|
0.00024
|
NM_182760.4(SUMF1):c.836C>T (p.Ala279Val)
|
rs137852849
|
0.00024
|
NM_004646.4(NPHS1):c.65C>T (p.Ala22Val)
|
rs116617171
|
0.00023
|
NM_000257.4(MYH7):c.77C>T (p.Ala26Val)
|
rs186964570
|
0.00021
|
NM_207352.4(CYP4V2):c.367A>G (p.Met123Val)
|
rs149684063
|
0.00021
|
NM_000216.4(ANOS1):c.1678G>A (p.Val560Ile)
|
rs2229013
|
0.00019
|
NM_006005.3(WFS1):c.1235T>C (p.Val412Ala)
|
rs144951440
|
0.00019
|
NM_000153.4(GALC):c.1901T>C (p.Leu634Ser)
|
rs138577661
|
0.00018
|
NM_000441.2(SLC26A4):c.919-2A>G
|
rs111033313
|
0.00018
|
NM_006005.3(WFS1):c.2209G>A (p.Glu737Lys)
|
rs147834269
|
0.00018
|
NM_000249.4(MLH1):c.2101C>A (p.Gln701Lys)
|
rs63750114
|
0.00016
|
NM_000441.2(SLC26A4):c.225C>G (p.Leu75=)
|
rs187447337
|
0.00016
|
NM_001035.3(RYR2):c.4652A>G (p.Asn1551Ser)
|
rs185237690
|
0.00016
|
NM_001206744.2(TPO):c.2647C>T (p.Pro883Ser)
|
rs190968346
|
0.00016
|
NM_004183.4(BEST1):c.584C>T (p.Ala195Val)
|
rs200277476
|
0.00016
|
NM_000053.4(ATP7B):c.3886G>A (p.Asp1296Asn)
|
rs199821556
|
0.00014
|
NM_000132.4(F8):c.3169G>A (p.Glu1057Lys)
|
rs28933673
|
0.00014
|
NM_001360.3(DHCR7):c.907G>A (p.Gly303Arg)
|
rs142808899
|
0.00014
|
NM_181840.1(KCNK18):c.361dup (p.Tyr121fs)
|
rs541915908
|
0.00013
|
NM_199242.3(UNC13D):c.2588G>A (p.Gly863Asp)
|
rs140184929
|
0.00013
|
NM_016953.4(PDE11A):c.1811C>G (p.Ser604Ter)
|
rs771254375
|
0.00011
|
NM_201253.3(CRB1):c.2714G>A (p.Arg905Gln)
|
rs114052315
|
0.00011
|
NM_206933.4(USH2A):c.8342C>T (p.Thr2781Ile)
|
rs143240767
|
0.00011
|
NM_000094.4(COL7A1):c.4118C>T (p.Ser1373Leu)
|
rs140403507
|
0.00010
|
NM_000133.4(F9):c.769G>A (p.Val257Ile)
|
rs200608775
|
0.00010
|
NM_139027.6(ADAMTS13):c.2167C>A (p.Gln723Lys)
|
rs138014548
|
0.00010
|
NM_000132.4(F8):c.6724G>A (p.Val2242Met)
|
rs782654096
|
0.00008
|
NM_000477.7(ALB):c.725G>A (p.Arg242His)
|
rs75002628
|
0.00008
|
NM_000890.5(KCNJ5):c.1159G>C (p.Gly387Arg)
|
rs199830292
|
0.00008
|
NM_002241.5(KCNJ10):c.1042C>T (p.Arg348Cys)
|
rs137853074
|
0.00008
|
NM_000088.4(COL1A1):c.3766G>A (p.Ala1256Thr)
|
rs148216434
|
0.00006
|
NM_000503.6(EYA1):c.671G>T (p.Gly224Val)
|
rs201509408
|
0.00006
|
NM_000527.5(LDLR):c.344G>A (p.Arg115His)
|
rs201102461
|
0.00006
|
NM_000059.4(BRCA2):c.9275A>G (p.Tyr3092Cys)
|
rs80359195
|
0.00005
|
NM_000350.3(ABCA4):c.1294G>A (p.Glu432Lys)
|
rs201117452
|
0.00005
|
NM_001386393.1(PANK2):c.803A>G (p.Asp268Gly)
|
rs562740927
|
0.00005
|
NM_001395413.1(POR):c.1361G>A (p.Arg454His)
|
rs28931608
|
0.00005
|
NM_139248.3(LIPH):c.736T>A (p.Cys246Ser)
|
rs201249971
|
0.00005
|
NM_000071.3(CBS):c.341C>T (p.Ala114Val)
|
rs121964964
|
0.00004
|
NM_000153.4(GALC):c.2041G>A (p.Val681Met)
|
rs200607029
|
0.00004
|
NM_000214.3(JAG1):c.1511A>G (p.Asn504Ser)
|
rs527236046
|
0.00004
|
NM_000441.2(SLC26A4):c.2168A>G (p.His723Arg)
|
rs121908362
|
0.00004
|
NM_000546.6(TP53):c.91G>A (p.Val31Ile)
|
rs201753350
|
0.00004
|
NM_001363711.2(DUOX2):c.2653C>T (p.Arg885Ter)
|
rs199589510
|
0.00004
|
NM_001371623.1(TCOF1):c.2575C>G (p.Gln859Glu)
|
rs201043592
|
0.00004
|
NM_002098.6(GUCA1B):c.469G>A (p.Gly157Arg)
|
rs121909124
|
0.00004
|
NM_004360.5(CDH1):c.2494G>A (p.Val832Met)
|
rs35572355
|
0.00004
|
NM_005630.3(SLCO2A1):c.1807C>T (p.Arg603Ter)
|
rs776813259
|
0.00004
|
NM_000055.4(BCHE):c.1177G>C (p.Gly393Arg)
|
rs115129687
|
0.00003
|
NM_000059.4(BRCA2):c.1744A>C (p.Thr582Pro)
|
rs80358457
|
0.00003
|
NM_000138.5(FBN1):c.7241G>A (p.Arg2414Gln)
|
rs143863014
|
0.00003
|
NM_000311.5(PRNP):c.538G>A (p.Val180Ile)
|
rs74315408
|
0.00003
|
NM_001370658.1(BTD):c.581A>G (p.Asn194Ser)
|
rs397514377
|
0.00003
|
NM_005476.7(GNE):c.527A>T (p.Asp176Val)
|
rs139425890
|
0.00003
|
NM_144773.4(PROKR2):c.533G>C (p.Trp178Ser)
|
rs201835496
|
0.00003
|
NM_000070.3(CAPN3):c.2243G>A (p.Arg748Gln)
|
rs587780290
|
0.00002
|
NM_000151.4(G6PC1):c.648G>T (p.Leu216=)
|
rs80356484
|
0.00002
|
NM_000303.3(PMM2):c.580C>T (p.Arg194Ter)
|
rs199562225
|
0.00002
|
NM_000532.5(PCCB):c.1304A>G (p.Tyr435Cys)
|
rs121964961
|
0.00002
|
NM_001252024.2(TRPM1):c.1936C>T (p.Arg646Cys)
|
rs387906862
|
0.00002
|
NM_005472.5(KCNE3):c.10A>G (p.Thr4Ala)
|
rs200856070
|
0.00002
|
NM_007294.4(BRCA1):c.824G>A (p.Gly275Asp)
|
rs397509327
|
0.00002
|
NM_000053.4(ATP7B):c.2621C>T (p.Ala874Val)
|
rs121907994
|
0.00001
|
NM_000055.4(BCHE):c.884A>G (p.Lys295Arg)
|
rs115624085
|
0.00001
|
NM_000059.4(BRCA2):c.964A>C (p.Lys322Gln)
|
rs11571640
|
0.00001
|
NM_000119.2(EPB42):c.424G>A (p.Ala142Thr)
|
rs104894487
|
0.00001
|
NM_000419.5(ITGA2B):c.2333A>C (p.Gln778Pro)
|
rs74475415
|
0.00001
|
NM_000532.5(PCCB):c.1316A>G (p.Tyr439Cys)
|
rs769521436
|
0.00001
|
NM_000784.4(CYP27A1):c.1214G>A (p.Arg405Gln)
|
rs121908099
|
0.00001
|
NM_000784.4(CYP27A1):c.435G>T (p.Gly145=)
|
rs587778796
|
0.00001
|
NM_001008216.2(GALE):c.715C>T (p.Arg239Trp)
|
rs137853860
|
0.00001
|
NM_001048174.2(MUTYH):c.773G>A (p.Gly258Glu)
|
rs730881833
|
0.00001
|
NM_001126108.2(SLC12A3):c.2546T>A (p.Leu849His)
|
rs185927948
|
0.00001
|
NM_001252024.2(TRPM1):c.1263G>A (p.Pro421=)
|
rs768701595
|
0.00001
|
NM_002282.3(KRT83):c.1219G>A (p.Glu407Lys)
|
rs57802288
|
0.00001
|
NM_004004.6(GJB2):c.583A>G (p.Met195Val)
|
rs532203068
|
0.00001
|
NM_015506.3(MMACHC):c.616C>T (p.Arg206Trp)
|
rs538023671
|
0.00001
|
NM_000263.4(NAGLU):c.1694G>C (p.Arg565Pro)
|
rs104894598
|
|
NM_000277.3(PAH):c.1033G>A (p.Ala345Thr)
|
rs62516062
|
|
NM_000277.3(PAH):c.500A>G (p.Asn167Ser)
|
rs77554925
|
|
NM_000312.4(PROC):c.574AAG[1] (p.Lys193del)
|
rs199469469
|
|
NM_000492.4(CFTR):c.4056G>C (p.Gln1352His)
|
rs113857788
|
|
NM_000500.9(CYP21A2):c.1174G>A (p.Ala392Thr)
|
rs202242769
|
|
NM_001001548.3(CD36):c.1228_1239del (p.Ile410_Ile413del)
|
rs550565800
|
|
NM_001077197.2(PDE11A):c.20_21del (p.Arg7fs)
|
rs202117698
|
|
NM_001113378.2(FANCI):c.158-2A>G
|
rs762128147
|
|
NM_001167.4(XIAP):c.1045GAG[1] (p.Glu350del)
|
rs199683465
|
|
NM_001317778.2(SFTPC):c.115G>T (p.Val39Leu)
|
rs183533911
|
|
NM_001378454.1(ALMS1):c.3781G>T (p.Glu1261Ter)
|
rs1085307054
|
|
NM_002335.4(LRP5):c.593A>G (p.Asn198Ser)
|
rs1085307078
|
|
NM_003738.5(PTCH2):c.1172_1173del (p.Phe390_Ser391insTer)
|
rs56126236
|
|
NM_007294.4(BRCA1):c.3629dup (p.Ser1211fs)
|
rs886040154
|
|
NM_016579.4(CD320):c.256GAG[2] (p.Glu88del)
|
rs150384171
|
|
NM_016953.4(PDE11A):c.2268_2272del (p.Ser757fs)
|
rs769235876
|
|
NM_017636.4(TRPM4):c.2987_3014del (p.Glu996fs)
|
rs765535147
|
|
NM_024570.4(RNASEH2B):c.509del (p.Lys170fs)
|
rs1085307091
|
|
NM_183050.4(BCKDHB):c.368del (p.Pro123fs)
|
rs1085307058
|
|
NM_207034.3(EDN3):c.49G>A (p.Ala17Thr)
|
rs11570255
|
|