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: rs143570936
rs143570936
5 0.925 0.200 17 50169246 missense variant G/A snv 1.1E-04 1.8E-04 0.700 1.000 9 1995 2014
dbSNP: rs28933693
rs28933693
3 0.882 0.200 17 50167653 missense variant C/T snv 4.6E-04 4.5E-04 0.700 1.000 8 1995 2016
dbSNP: rs137852623
rs137852623
2 0.925 0.200 17 50170245 missense variant C/G;T snv 3.6E-05; 1.5E-04 0.700 1.000 6 1997 2014