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: rs869312739
rs869312739
2 1.000 1 229432295 missense variant C/A snv 0.010 1.000 1 2019 2019