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: rs8176719
rs8176719
ABO
6 0.925 0.120 9 133257521 frameshift variant -/C ins 0.37 0.35 0.800 1.000 1 2012 2012
dbSNP: rs8176722
rs8176722
ABO
3 1.000 0.040 9 133257367 intron variant C/A snv 0.13 0.12 0.800 1.000 1 2013 2013
dbSNP: rs505922
rs505922
ABO
34 0.689 0.520 9 133273813 intron variant C/T snv 0.700 1.000 1 2013 2013
dbSNP: rs77641731
rs77641731
ABO
3 1.000 0.040 9 133257521 missense variant T/C snv 0.700 1.000 1 2012 2012
dbSNP: rs8176672
rs8176672
ABO
2 1.000 0.040 9 133266772 intron variant C/G;T snv 0.700 1.000 1 2013 2013
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: rs8176703
rs8176703
ABO
1 1.000 0.040 9 133260460 intron variant G/T snv 0.700 1.000 1 2012 2012
dbSNP: rs8176743
rs8176743
ABO
7 1.000 0.040 9 133256028 missense variant C/T snv 0.12 0.11 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: 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: rs8176751
rs8176751
ABO
1 1.000 0.040 9 133255635 synonymous variant C/A;T snv 0.13 0.700 1.000 1 2013 2013