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: rs121913627
rs121913627
6 0.851 0.080 14 23427657 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs121913630
rs121913630
6 0.851 0.080 14 23425814 missense variant G/A;C snv 1.2E-05 0.010 1.000 1 2010 2010
dbSNP: rs145734640
rs145734640
2 0.925 0.080 14 23415096 missense variant G/A;C;T snv 1.6E-05; 1.6E-05; 4.0E-06 0.010 1.000 1 2015 2015