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: rs1057519792
rs1057519792
1 1.000 0.040 5 177095415 missense variant C/A;G snv 0.700 1.000 1 2013 2013