Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1448903
rs1448903
1 2 206444237 intron variant A/G snv 6.1E-02 0.700 1.000 3 2018 2019
dbSNP: rs1018454
rs1018454
DPT
1 1 168728523 intron variant A/C snv 0.57 0.700 1.000 2 2018 2018
dbSNP: rs10405357
rs10405357
1 19 54255803 intron variant T/C snv 0.50 0.700 1.000 2 2018 2018
dbSNP: rs1048328
rs1048328
1 19 51024108 missense variant G/A;C snv 6.0E-02; 4.2E-06 0.700 1.000 2 2018 2018
dbSNP: rs10490666
rs10490666
VIT
1 2 36705350 intron variant A/T snv 0.26 0.700 1.000 2 2018 2018
dbSNP: rs1050239
rs1050239
1 11 6394233 missense variant G/A;C snv 0.19 0.700 1.000 2 2018 2019
dbSNP: rs10509554
rs10509554
1 10 88766035 intron variant C/T snv 0.26 0.700 1.000 2 2018 2018
dbSNP: rs111577916
rs111577916
1 11 126201454 downstream gene variant G/A;T snv 0.700 1.000 2 2018 2018
dbSNP: rs112433249
rs112433249
1 8 56964017 missense variant T/C snv 1.0E-02 9.1E-03 0.700 1.000 2 2018 2018
dbSNP: rs1147707
rs1147707
1 3 120450401 intron variant C/T snv 0.28 0.700 1.000 2 2018 2018
dbSNP: rs11555096
rs11555096
FAH
2 1.000 15 80180184 missense variant C/A;T snv 1.7E-02 0.700 1.000 2 2018 2018
dbSNP: rs11558819
rs11558819
1 21 44236891 missense variant C/T snv 0.27 0.700 1.000 2 2018 2018
dbSNP: rs115668827
rs115668827
1 1 107135646 upstream gene variant G/C snv 3.2E-02 0.700 1.000 2 2018 2018
dbSNP: rs11581248
rs11581248
1 1 160750284 intron variant C/T snv 8.7E-02 8.6E-02 0.700 1.000 2 2018 2018
dbSNP: rs12599777
rs12599777
1 16 5029465 non coding transcript exon variant A/G snv 0.17 0.700 1.000 2 2018 2018
dbSNP: rs12964
rs12964
2 12 6463025 3 prime UTR variant T/C snv 0.46 0.700 1.000 2 2018 2018
dbSNP: rs13318853
rs13318853
1 3 148844612 intron variant G/A;T snv 0.22; 4.0E-06 0.700 1.000 2 2018 2018
dbSNP: rs138616686
rs138616686
1 6 3003736 5 prime UTR variant A/C;G snv 0.700 1.000 2 2018 2018
dbSNP: rs139695917
rs139695917
1 12 42133239 intron variant T/C snv 7.8E-03 0.700 1.000 2 2018 2018
dbSNP: rs1468810
rs1468810
VIT
1 2 36766797 intron variant C/A snv 0.45 0.700 1.000 2 2018 2018
dbSNP: rs15881
rs15881
1 8 21693256 3 prime UTR variant A/C;G;T snv 0.48; 1.2E-05 0.700 1.000 2 2018 2018
dbSNP: rs16837641
rs16837641
1 2 205770145 intron variant G/A snv 0.29 0.700 1.000 2 2018 2018
dbSNP: rs16923189
rs16923189
1 9 5510644 5 prime UTR variant A/G snv 0.28 0.700 1.000 2 2018 2018
dbSNP: rs16933084
rs16933084
C1S
1 12 7064780 intron variant A/T snv 0.12 0.700 1.000 2 2018 2018
dbSNP: rs17288108
rs17288108
1 12 95738117 missense variant A/G snv 4.0E-06; 0.13 0.12 0.700 1.000 2 2018 2018