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: rs1373863123
rs1373863123
4 1.000 0.080 7 5529540 missense variant G/A snv 0.010 1.000 1 2013 2013
dbSNP: rs397515470
rs397515470
2 0.925 0.280 7 5529175 missense variant C/T snv 0.010 1.000 1 2013 2013