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: rs1057519328
rs1057519328
1 1.000 0.200 16 3249592 missense variant G/C snv 2.1E-05 0.700 0
dbSNP: rs751454741
rs751454741
1 1.000 0.200 16 3254736 missense variant C/T snv 4.0E-06 0.700 0
dbSNP: rs755659290
rs755659290
1 1.000 0.200 16 3249480 missense variant T/C snv 1.2E-05 1.4E-05 0.700 0
dbSNP: rs3743930
rs3743930
43 0.611 0.720 16 3254626 missense variant C/G;T snv 7.1E-02 0.050 0.800 5 2000 2015
dbSNP: rs61752717
rs61752717
72 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 0.040 1.000 4 2000 2015
dbSNP: rs28940579
rs28940579
13 0.732 0.440 16 3243310 missense variant A/G;T snv 2.2E-03; 4.0E-06 0.020 1.000 2 2000 2004
dbSNP: rs28940580
rs28940580
17 0.742 0.560 16 3243447 missense variant C/A;G;T snv 1.0E-04; 8.0E-06 0.020 1.000 2 2013 2015
dbSNP: rs104895083
rs104895083
2 0.925 0.200 16 3247166 missense variant G/C;T snv 4.0E-05; 1.2E-05 0.010 1.000 1 2008 2008
dbSNP: rs104895094
rs104895094
5 0.851 0.320 16 3243403 missense variant T/A;C snv 8.0E-06; 5.2E-03 0.010 1.000 1 2006 2006