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: rs2066844
rs2066844
54 0.587 0.520 16 50712015 missense variant C/T snv 2.6E-02 2.9E-02 0.010 1.000 1 2010 2010
dbSNP: rs2066847
rs2066847
18 0.716 0.400 16 50729868 frameshift variant C/-;CC delins 1.5E-02 0.010 1.000 1 2010 2010