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: rs1047303
rs1047303
4 0.851 0.120 1 119514623 missense variant C/A snv 0.75 0.010 1.000 1 2019 2019