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: rs746140741
rs746140741
1 1.000 22 43926973 missense variant G/A snv 6.0E-05 3.5E-05 0.700 1.000 4 2008 2016
dbSNP: rs190477302
rs190477302
1 1.000 22 43932990 missense variant C/G;T snv 4.0E-06; 2.5E-04 0.700 0