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: rs2066847
rs2066847
2 0.716 0.400 16 50729868 frameshift variant C/-;CC delins 1.5E-02 0.700 1.000 1 2011 2011