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: rs397508986
rs397508986
9 0.807 0.280 17 43092919 frameshift variant G/AA delins 0.010 1.000 1 2009 2009
dbSNP: rs799917
rs799917
18 0.708 0.320 17 43092919 missense variant G/A;C;T snv 0.40; 1.6E-05 0.010 1.000 1 2009 2009