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: rs145156267
rs145156267
1 1.000 19 53811123 missense variant G/A snv 9.5E-05 1.1E-04 0.010 1.000 1 2019 2019
dbSNP: rs121908130
rs121908130
3 0.882 0.160 15 77031225 missense variant G/A snv 0.010 1.000 1 2011 2011
dbSNP: rs28939089
rs28939089
3 0.882 0.160 15 77032304 missense variant G/A;C snv 0.010 1.000 1 2011 2011
dbSNP: rs28940579
rs28940579
13 0.732 0.440 16 3243310 missense variant A/G;T snv 2.2E-03; 4.0E-06 0.010 1.000 1 2019 2019