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: rs12216891
rs12216891
ABO
1 9 133251979 non coding transcript exon variant C/T snv 7.8E-02 0.700 1.000 1 2018 2018
dbSNP: rs2519093
rs2519093
ABO
16 0.882 0.200 9 133266456 intron variant T/C snv 0.700 1.000 1 2018 2018
dbSNP: rs550057
rs550057
ABO
11 0.925 0.080 9 133271182 intron variant T/A;C snv 0.700 1.000 1 2019 2019