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: rs1018001612
rs1018001612
2 0.925 0.120 6 161548873 missense variant C/T snv 2.8E-05 0.020 1.000 2 2019 2019