rs512770
This is a coding sequence variant variant in the ABO gene.
▶GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶Gene‐centric approach identifies new and known loci for
F
VIII activity and
VWF
antigen levels in
E
uropean
A
mericans and
A
frican
A
mericansAssociationN=23,603Weihong Tang et al.(2015)· American Journal of Hematology
Gene-centric association study of 18,556 European Americans and 5,047 African Americans identified novel genetic loci associated with Factor VIII coagulant activity (FVIII:C) and von Willebrand factor antigen (VWF:Ag). New associations were found at KNG1 (rs710446, Ile581Thr, p=5.10×10⁻⁷ in EAs; p=3.88×10⁻³ in AAs), VWF (rs7962217, Gly2705Arg, p=6.30×10⁻⁹ in EAs; p=2.98×10⁻² in AAs), TMLHE (rs12557310, p=8.02×10⁻¹⁰ in EAs), and MAT1A (rs2236568, p=1.69×10⁻⁶ in AAs). Variants explained 14.5% of variance in FVIII:C and 15.6% in VWF:Ag.
About ABO
This gene encodes proteins related to the first discovered blood group system, ABO. Variation in the ABO gene (chromosome 9q34.2) is the basis of the ABO blood group, thus the presence of an allele determines the blood group in an individual. The 'O' blood group is caused by a deletion of guanine-258 near the N-terminus of the protein which results in a frameshift and translation of an almost entirely different protein. Individuals with the A, B, and AB alleles express glycosyltransferase activities that convert the H antigen into the A or B antigen. Other minor alleles have been found for this gene. [provided by RefSeq, Apr 2022]
View all ABO variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…