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: rs587778966
rs587778966
3 0.925 0.160 3 36996698 frameshift variant -/C delins 0.010 1.000 1 2015 2015
dbSNP: rs63750206
rs63750206
9 0.807 0.200 3 36996701 missense variant G/A;C;T snv 0.010 1.000 1 2015 2015