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: rs1057520005
rs1057520005
14 0.742 0.360 17 7673800 missense variant C/A;G snv 0.710 1.000 2 2015 2016