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: 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: rs17669
rs17669
5 0.851 0.160 18 58451261 non coding transcript exon variant C/A;T snv 0.72 0.010 1.000 1 2020 2020
dbSNP: rs2228145
rs2228145
57 0.602 0.720 1 154454494 missense variant A/C;T snv 0.38; 1.2E-05 0.010 1.000 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: 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: rs10089084
rs10089084
1 8 39912430 intron variant G/C snv 0.30 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: rs10488682
rs10488682
2 1.000 0.160 11 18040935 5 prime UTR variant T/A snv 0.19 0.010 1.000 1 2019 2019
dbSNP: rs10988134
rs10988134
4 0.925 0.080 9 128833128 3 prime UTR variant C/T snv 0.34 0.010 1.000 1 2019 2019
dbSNP: rs112896372
rs112896372
1 5 3756587 intergenic variant T/C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs11792633
rs11792633
5 0.882 0.280 9 6248035 intron variant C/T snv 0.35 0.010 1.000 1 2019 2019
dbSNP: rs1353702185
rs1353702185
79 0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1480544
rs1480544
1 4 170066485 splice region variant A/G;T snv 0.57; 4.0E-04 0.010 1.000 1 2019 2019
dbSNP: rs1799913
rs1799913
5 0.851 0.080 11 18025708 splice region variant G/A;T snv 0.39 0.33 0.010 1.000 1 2019 2019
dbSNP: rs1800532
rs1800532
15 0.763 0.160 11 18026269 intron variant G/T snv 0.33 0.010 1.000 1 2019 2019
dbSNP: rs2074633
rs2074633
2 7 18996297 3 prime UTR variant T/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs2274924
rs2274924
6 0.851 0.160 9 74761731 missense variant T/C snv 0.20 0.23 0.010 1.000 1 2019 2019
dbSNP: rs3787268
rs3787268
5 0.851 0.240 20 46013092 intron variant G/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs3824259
rs3824259
1 8 39912074 intron variant C/A snv 0.60 0.010 1.000 1 2019 2019
dbSNP: rs4570625
rs4570625
25 0.724 0.200 12 71938143 upstream gene variant G/T snv 0.27 0.010 1.000 1 2019 2019
dbSNP: rs4636297
rs4636297
14 0.724 0.360 9 136670698 intron variant A/G snv 0.67 0.65 0.010 1.000 1 2019 2019
dbSNP: rs4762
rs4762
AGT
35 0.637 0.440 1 230710231 missense variant G/A snv 0.12 0.11 0.010 1.000 1 2019 2019
dbSNP: rs587777940
rs587777940
1 7 55202667 missense variant T/G snv 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs61921502
rs61921502
2 1.000 0.080 12 65438688 intron variant T/G snv 0.10 0.010 1.000 1 2019 2019
dbSNP: rs623580
rs623580
1 11 18042430 upstream gene variant A/T snv 0.65 0.010 1.000 1 2019 2019