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: rs1057519953
rs1057519953
8 0.807 0.200 3 49375576 missense variant C/A;T snv 0.010 1.000 1 2014 2014