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: rs1555393172
rs1555393172
1 15 40936659 frameshift variant CGGACGACGGC/- delins 0.700 1.000 22 1996 2013