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: rs1799971
rs1799971
95 0.559 0.600 6 154039662 missense variant A/G snv 0.19 0.12 0.100 0.944 18 2006 2019
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.060 1.000 6 2008 2019
dbSNP: rs324420
rs324420
48 0.637 0.440 1 46405089 missense variant C/A snv 0.24 0.26 0.020 1.000 2 2014 2016
dbSNP: rs769540300
rs769540300
8 0.851 0.200 6 154091047 missense variant G/A snv 1.2E-05 0.020 1.000 2 2008 2018
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2018 2018
dbSNP: rs10483636
rs10483636
1 1.000 0.120 14 54334127 intergenic variant A/G snv 7.2E-02 0.010 < 0.001 1 2011 2011
dbSNP: rs1187761291
rs1187761291
1 1.000 0.120 6 154039569 missense variant A/G snv 4.1E-06 0.010 < 0.001 1 2010 2010
dbSNP: rs1288779666
rs1288779666
2 1.000 0.120 22 42128944 missense variant C/G snv 0.010 1.000 1 2016 2016
dbSNP: rs13093031
rs13093031
2 1.000 0.120 3 88809891 intergenic variant A/G snv 0.17 0.010 1.000 1 2018 2018
dbSNP: rs1473203326
rs1473203326
1 1.000 0.120 22 42128215 missense variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs1718125
rs1718125
6 0.851 0.200 12 121155216 intron variant C/T snv 0.15 0.19 0.010 1.000 1 2019 2019
dbSNP: rs200811844
rs200811844
1 1.000 0.120 6 154091110 missense variant T/C snv 1.8E-04 7.8E-04 0.010 1.000 1 2016 2016
dbSNP: rs2032582
rs2032582
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.010 1.000 1 2018 2018
dbSNP: rs2234918
rs2234918
5 0.827 0.200 1 28863085 synonymous variant C/T snv 0.59 0.50 0.010 1.000 1 2017 2017
dbSNP: rs2835859
rs2835859
3 0.925 0.200 21 37645860 intron variant T/C snv 0.16 0.010 < 0.001 1 2014 2014
dbSNP: rs373611092
rs373611092
5 0.925 0.160 22 19962794 missense variant A/G snv 8.4E-05 4.9E-05 0.010 1.000 1 2018 2018
dbSNP: rs3783641
rs3783641
4 0.882 0.120 14 54893421 intron variant T/A;C snv 0.25 0.010 < 0.001 1 2011 2011
dbSNP: rs4633
rs4633
25 0.695 0.400 22 19962712 synonymous variant C/T snv 0.46 0.45 0.010 1.000 1 2016 2016
dbSNP: rs533123
rs533123
3 0.882 0.160 1 28814643 intron variant G/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs6961071
rs6961071
2 1.000 0.120 7 156182007 downstream gene variant A/G;T snv 0.47 0.010 1.000 1 2018 2018
dbSNP: rs7439366
rs7439366
16 0.752 0.320 4 69098620 missense variant T/C snv 0.56 0.57 0.010 1.000 1 2016 2016
dbSNP: rs749415280
rs749415280
2 1.000 0.120 4 69096638 missense variant A/G snv 0.010 1.000 1 2016 2016
dbSNP: rs76060075
rs76060075
2 1.000 0.120 22 42129185 missense variant C/G snv 0.010 1.000 1 2016 2016
dbSNP: rs765502022
rs765502022
8 0.827 0.240 4 69112695 missense variant T/C snv 1.6E-05 0.010 1.000 1 2016 2016
dbSNP: rs8007267
rs8007267
6 0.882 0.200 14 54912273 intergenic variant C/T snv 0.31 0.010 < 0.001 1 2011 2011