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: rs121912438
rs121912438
58 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs201078173
rs201078173
SDS
4 0.925 0.280 12 113399616 missense variant C/T snv 8.6E-06 7.0E-05 0.010 1.000 1 2008 2008
dbSNP: rs746686166
rs746686166
4 0.925 0.280 2 97646179 missense variant G/A;T snv 6.7E-06 0.010 1.000 1 2008 2008