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: rs1553583712
rs1553583712
2 1.000 2 165354339 frameshift variant GA/- del 0.700 1.000 34 1991 2017
dbSNP: rs796053162
rs796053162
3 0.882 0.080 2 165389123 missense variant G/A snv 0.700 1.000 34 1991 2017