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: rs1057519978
rs1057519978
12 0.763 0.360 17 7675191 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016