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: rs550057
rs550057
ABO
11 0.925 0.080 9 133271182 intron variant T/A;C snv 0.010 < 0.001 1 2019 2019