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: rs397509039
rs397509039
2 1.000 0.200 17 43092379 missense variant G/A;C snv 0.010 1.000 1 2009 2009
dbSNP: rs62625307
rs62625307
8 0.827 0.200 17 43091933 stop gained G/A snv 4.0E-06 0.010 1.000 1 2007 2007