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: rs76328980
rs76328980
2 0.925 0.080 4 94299521 missense variant C/T snv 7.6E-03 1.8E-02 0.010 1.000 1 2012 2012