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: rs397517132
rs397517132
48 0.623 0.280 7 55191846 missense variant A/T snv 0.010 1.000 1 2013 2013
dbSNP: rs1057519760
rs1057519760
1 7 55160314 missense variant A/G snv 0.700 1.000 1 2012 2012