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: rs1157200929
rs1157200929
2 0.925 0.120 19 22180315 stop gained T/A snv 0.010 1.000 1 2019 2019
dbSNP: rs12979860
rs12979860
84 0.547 0.520 19 39248147 intron variant C/T snv 0.39 0.010 1.000 1 2012 2012
dbSNP: rs1800682
rs1800682
32 0.637 0.440 10 88990206 non coding transcript exon variant A/G snv 0.54 0.010 1.000 1 2018 2018
dbSNP: rs572432356
rs572432356
2 0.925 0.120 5 75596681 missense variant A/C snv 0.010 1.000 1 2019 2019
dbSNP: rs587781386
rs587781386
3 0.882 0.120 17 7674889 missense variant A/C;G snv 3.2E-05; 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs28934576
rs28934576
78 0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 0.010 1.000 1 1992 1992
dbSNP: rs752626029
rs752626029
2 0.925 0.120 2 25239208 missense variant G/A;C;T snv 4.0E-06; 1.2E-05; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs759834538
rs759834538
3 0.925 0.120 9 136517294 missense variant C/A snv 1.7E-05 0.010 1.000 1 2016 2016
dbSNP: rs764562217
rs764562217
3 0.882 0.120 17 7673308 stop lost T/G snv 2.3E-05 3.5E-05 0.010 1.000 1 2007 2007
dbSNP: rs35631544
rs35631544
2 0.925 0.120 16 24191130 missense variant C/A;G snv 6.3E-04 1.0E-03 0.010 1.000 1 2019 2019
dbSNP: rs72963007
rs72963007
1 1.000 0.120 4 105243566 splice region variant G/A snv 3.2E-03 1.0E-02 0.010 1.000 1 2017 2017