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: rs12475512
rs12475512
2 2 231433365 downstream gene variant G/A snv 0.47 0.700 1.000 1 2013 2013