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: rs515726227
rs515726227
2 0.925 0.080 4 4863139 frameshift variant -/TA delins 0.710 1.000 2 1996 2014