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: rs136175
rs136175
2 0.925 0.120 22 36265520 missense variant G/A;C;T snv 0.84; 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs2239785
rs2239785
5 0.827 0.240 22 36265284 missense variant G/A snv 0.79 0.68 0.010 1.000 1 2009 2009