Gene: ABO ×
Source: ALL
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: rs8176749
rs8176749
ABO
7 1.000 0.040 9 133255801 synonymous variant C/T snv 0.12 0.11 0.700 1.000 1 2013 2013
dbSNP: rs8176748
rs8176748
ABO
2 9 133255902 missense variant C/A;T snv 4.0E-06; 0.27 0.700 1.000 1 2013 2013
dbSNP: rs8176747
rs8176747
ABO
6 9 133255928 missense variant C/A;G snv 4.1E-06; 0.12 0.700 1.000 1 2013 2013
dbSNP: rs8176746
rs8176746
ABO
12 0.882 0.160 9 133255935 missense variant G/A;T snv 4.1E-06; 0.12 0.700 1.000 1 2013 2013
dbSNP: rs8176743
rs8176743
ABO
7 1.000 0.040 9 133256028 missense variant C/T snv 0.12 0.11 0.800 1.000 1 2013 2013
dbSNP: rs8176740
rs8176740
ABO
2 9 133256085 missense variant A/T snv 0.25 0.25 0.700 1.000 1 2013 2013
dbSNP: rs8176732
rs8176732
ABO
3 9 133256916 intron variant A/G snv 0.25 0.700 1.000 1 2013 2013
dbSNP: rs8176730
rs8176730
ABO
2 9 133257138 intron variant T/C snv 0.13 0.700 1.000 1 2013 2013
dbSNP: rs8176728
rs8176728
ABO
3 9 133257174 intron variant G/C;T snv 0.700 1.000 1 2013 2013
dbSNP: rs8176725
rs8176725
ABO
2 9 133257230 intron variant G/A snv 0.13 0.700 1.000 1 2013 2013
dbSNP: rs8176722
rs8176722
ABO
3 1.000 0.040 9 133257367 intron variant C/A snv 0.13 0.12 0.700 1.000 1 2013 2013
dbSNP: rs8176719
rs8176719
ABO
6 0.925 0.120 9 133257521 frameshift variant -/C ins 0.37 0.35 0.700 1.000 1 2019 2019
dbSNP: rs8176717
rs8176717
ABO
3 9 133257647 intron variant G/T snv 0.26 0.700 1.000 1 2013 2013
dbSNP: rs8176714
rs8176714
ABO
4 9 133257791 intron variant G/A snv 0.26 0.700 1.000 1 2013 2013
dbSNP: rs8176704
rs8176704
ABO
5 0.925 0.080 9 133260148 intron variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs8176693
rs8176693
ABO
9 0.851 0.160 9 133262254 intron variant C/T snv 9.9E-02 0.700 1.000 1 2013 2013
dbSNP: rs8176685
rs8176685
ABO
4 9 133263363 intron variant CACCACTACGCC/- delins 0.700 1.000 1 2019 2019
dbSNP: rs8176682
rs8176682
ABO
3 9 133263894 intron variant C/T snv 0.700 1.000 1 2013 2013
dbSNP: rs8176681
rs8176681
ABO
3 9 133264351 intron variant T/C snv 0.700 1.000 1 2013 2013
dbSNP: rs7857390
rs7857390
ABO
2 9 133253159 non coding transcript exon variant A/G snv 0.67 0.700 1.000 1 2019 2019
dbSNP: rs7853989
rs7853989
ABO
2 9 133256205 missense variant G/A;C snv 1.2E-05; 0.13 0.700 1.000 1 2013 2013
dbSNP: rs688976
rs688976
ABO
3 9 133261367 missense variant C/A snv 0.700 1.000 1 2013 2013
dbSNP: rs687621
rs687621
ABO
18 0.851 0.240 9 133261662 intron variant G/A;C snv 0.800 1.000 2 2010 2013
dbSNP: rs687289
rs687289
ABO
15 1.000 0.120 9 133261703 intron variant A/G snv 0.800 1.000 2 2013 2019
dbSNP: rs674302
rs674302
ABO
8 9 133271249 intron variant A/T snv 0.700 1.000 1 2013 2013