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 0.070 0.857 7 2006 2019
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.030 1.000 3 2010 2013
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.020 1.000 2 2014 2017
dbSNP: rs13080116
rs13080116
2 3 38865732 intron variant T/C snv 0.23 0.010 1.000 1 2017 2017
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: 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 2012 2012
dbSNP: rs33985936
rs33985936
2 3 38894643 missense variant C/A;T snv 8.0E-06; 0.22 0.010 1.000 1 2017 2017
dbSNP: rs3732765
rs3732765
1 3 151372636 missense variant G/A snv 0.31 0.28 0.010 1.000 1 2018 2018
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 2017 2017
dbSNP: rs3745367
rs3745367
8 0.827 0.200 19 7669625 intron variant G/A snv 0.39 0.010 1.000 1 2019 2019
dbSNP: rs3845446
rs3845446
3 1 181797301 intron variant T/C snv 6.3E-02 0.010 1.000 1 2016 2016
dbSNP: rs4286289
rs4286289
2 1.000 0.120 2 166305201 intron variant C/A snv 0.74 0.010 1.000 1 2016 2016
dbSNP: rs4818
rs4818
27 0.683 0.440 22 19963684 synonymous variant C/G;T snv 0.34 0.010 1.000 1 2014 2014
dbSNP: rs795484
rs795484
1 12 118152057 intron variant T/C snv 0.71 0.010 1.000 1 2014 2014