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: rs1057519855
rs1057519855
11 0.776 0.120 11 533873 missense variant CT/AC;TC mnv 0.010 1.000 1 2013 2013