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: rs104893642
rs104893642
1 1.000 0.080 2 226796916 missense variant G/A;C snv 1.5E-05; 5.0E-06 0.710 1.000 0 2003 2003
dbSNP: rs1259467443
rs1259467443
1 1.000 0.080 2 226796570 inframe deletion ACC/- delins 8.0E-06 7.0E-06 0.700 0