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: rs1042034
rs1042034
15 0.851 0.240 2 21002409 missense variant C/T snv 0.70 0.78 0.020 1.000 2 2007 2018
dbSNP: rs693
rs693
24 0.708 0.440 2 21009323 synonymous variant G/A snv 0.39 0.38 0.020 1.000 2 2017 2018
dbSNP: rs1042031
rs1042031
11 0.790 0.200 2 21002881 stop gained C/A;T snv 8.0E-06; 0.15 0.010 1.000 1 2017 2017
dbSNP: rs1801701
rs1801701
2 1.000 0.080 2 21005955 missense variant C/T snv 7.0E-02 6.6E-02 0.010 1.000 1 2017 2017
dbSNP: rs673548
rs673548
14 0.925 0.120 2 21014672 intron variant G/A;T snv 0.010 1.000 1 2018 2018
dbSNP: rs676210
rs676210
12 0.925 0.120 2 21008652 missense variant G/A;T snv 0.29 0.010 < 0.001 1 2014 2014
dbSNP: rs767587977
rs767587977
3 0.882 0.120 2 21002962 stop gained C/A;T snv 8.2E-06 0.010 1.000 1 2007 2007