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: rs1051922
rs1051922
1 1.000 0.080 9 21077717 synonymous variant G/A snv 0.33 0.35 0.010 1.000 1 2020 2020
dbSNP: rs12083537
rs12083537
4 0.882 0.200 1 154408627 intron variant A/G snv 0.22 0.010 1.000 1 2020 2020
dbSNP: rs1492099
rs1492099
5 0.882 0.120 3 148719716 intron variant T/A;C snv 0.89 0.010 < 0.001 1 2020 2020
dbSNP: rs275653
rs275653
5 0.882 0.120 3 148697758 upstream gene variant A/G snv 0.20 0.010 < 0.001 1 2020 2020
dbSNP: rs767649
rs767649
18 0.695 0.480 21 25572410 intron variant T/A snv 7.5E-02 0.010 < 0.001 1 2020 2020
dbSNP: rs8192284
rs8192284
19 0.724 0.720 1 154454494 missense variant A/C;T snv 0.010 1.000 1 2020 2020
dbSNP: rs852426
rs852426
5 0.882 0.240 7 5526722 downstream gene variant C/T snv 0.39 0.010 1.000 1 2020 2020
dbSNP: rs876537
rs876537
3 1.000 0.080 1 159705143 non coding transcript exon variant C/T snv 0.34 0.010 1.000 1 2020 2020
dbSNP: rs879324
rs879324
2 1.000 0.080 16 73034779 intron variant G/A snv 0.17 0.010 < 0.001 1 2020 2020
dbSNP: rs9333358
rs9333358
1 1.000 0.080 9 21078953 upstream gene variant T/C snv 0.20 0.010 1.000 1 2020 2020
dbSNP: rs152312
rs152312
3 0.925 0.080 5 60491989 non coding transcript exon variant G/A;T snv 0.020 0.500 2 2019 2020
dbSNP: rs17669
rs17669
5 0.851 0.160 18 58451261 non coding transcript exon variant C/A;T snv 0.72 0.020 0.500 2 2019 2020
dbSNP: rs2954029
rs2954029
14 0.807 0.160 8 125478730 intron variant A/T snv 0.42 0.020 1.000 2 2019 2019
dbSNP: rs3825807
rs3825807
10 0.807 0.120 15 78796769 missense variant A/G snv 0.34 0.33 0.020 1.000 2 2019 2019
dbSNP: rs7124442
rs7124442
9 0.827 0.160 11 27655494 3 prime UTR variant C/G;T snv 0.020 1.000 2 2019 2019
dbSNP: rs7173743
rs7173743
6 0.851 0.120 15 78849442 intron variant T/C snv 0.45 0.020 1.000 2 2019 2019
dbSNP: rs10431036
rs10431036
1 1.000 0.080 11 112176338 5 prime UTR variant G/A snv 0.11 0.010 1.000 1 2019 2019
dbSNP: rs10435816
rs10435816
2 1.000 0.080 9 6225535 intron variant A/G snv 0.35 0.010 1.000 1 2019 2019
dbSNP: rs1057335
rs1057335
5 0.827 0.120 17 1754359 missense variant G/A snv 0.22 0.20 0.010 1.000 1 2019 2019
dbSNP: rs11214109
rs11214109
1 1.000 0.080 11 112173503 intron variant C/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs11225395
rs11225395
11 0.776 0.360 11 102725749 intron variant A/C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs112735431
rs112735431
24 0.683 0.320 17 80385145 missense variant G/A;C snv 2.6E-04; 8.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs11498973
rs11498973
1 1.000 0.080 10 84732025 intergenic variant A/C snv 0.19 0.700 1.000 1 2019 2019
dbSNP: rs11556924
rs11556924
21 0.752 0.240 7 130023656 missense variant C/A;T snv 4.0E-06; 0.28 0.010 1.000 1 2019 2019
dbSNP: rs11583680
rs11583680
3 0.882 0.200 1 55039995 missense variant C/G;T snv 1.6E-05; 0.11 0.010 1.000 1 2019 2019