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: rs28940578
rs28940578
14 0.716 0.400 16 3243405 missense variant C/T snv 1.4E-04 6.3E-05 0.010 1.000 1 2008 2008
dbSNP: rs3743930
rs3743930
43 0.611 0.720 16 3254626 missense variant C/G;T snv 7.1E-02 0.010 1.000 1 2008 2008