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: rs587777512
rs587777512
7 0.827 0.320 4 150583180 missense variant C/G;T snv 0.010 1.000 1 2014 2014