Have questions? Visit https://www.reddit.com/r/SNPedia

rs8176719

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) likely to be of blood type O
(-;G) most likely to be of blood type A or B
(G;G) most likely to be of blood type A, B or AB
ReferenceGRCh38 38.1/142
Chromosome9
Position133257521
GeneABO
is asnp
is mentioned by
dbSNPrs8176719
ebirs8176719
HLIrs8176719
Exacrs8176719
Varsomers8176719
Maprs8176719
PheGenIrs8176719
hapmaprs8176719
1000 genomesrs8176719
hgdprs8176719
ensemblrs8176719
gopubmedrs8176719
geneviewrs8176719
scholarrs8176719
googlers8176719
pharmgkbrs8176719
gwascentralrs8176719
openSNPrs8176719
23andMers8176719
23andMe allrs8176719
SNP Nexus

SNPshotrs8176719
SNPdbers8176719
MSV3drs8176719
GWAS Ctlgrs8176719
GMAF0.3489
Max Magnitude
ABO blood group

rs8176719 represents a site in the ABO gene, and is a key SNP in determining blood group type O status. [PMID 2333095]

An allele that encodes either a blood group type A or type B will have a (G) at this SNP site, i.e. such an allele will be rs8176719(G). If a one-base deletion has occured at this site, removing this nucleotide all together, the corresponding allele is considered to be rs8176719(-) and encodes the most common blood group type O allele. However, an individual will typically only be blood group type O if they are carry two copies of (are homozygous) for this deletion, in other words, if their genotype is rs8176719(-;-). If they carry one copy, they could be blood type A, or blood type B (but are unlikely to be type O). A person who is rs8176719(G;G) is likely to be of blood type A, B, or AB, but due to the existence of (rare) nonfunctional O alleles brought about by (nondeletional) mutations at other positions than rs8176719, they could at least theoretically still be phenotyped as type O.

The determination of blood group types A, B, and AB through SNP analysis is reflected in the appropriate genosets.

OMIM110300
Desc
Variant
Relatedalso
[PMID 18464913OA-icon.png] A genome-wide association study identifies protein quantitative trait loci (pQTLs).


[PMID 19169360OA-icon.png] Histo-blood group gene polymorphisms as potential genetic modifiers of infection and cystic fibrosis lung disease severity.


[PMID 21257350OA-icon.png] DNA-based methods in the immunohematology reference laboratory.


[PMID 21306478] ABO blood group alleles and the risk of pancreatic cancer in a Japanese population.


[PMID 21680535] ABO genotype and the risk of gastric cancer, atrophic gastritis, and Helicobacter pylori infection.

GWAS snp
PMID [PMID 22672568OA-icon.png]
Trait
Title A genome-wide association study of venous thromboembolism identifies risk variants in chromosomes 1q24.2 and 9q.
Risk Allele G
P-val 6E-12
Odds Ratio 1.4700 None
GWAS snp
PMID [PMID 22895189]
Trait Malaria
Title Genome-wide association study indicates two novel resistance loci for severe malaria.
Risk Allele G
P-val 4E-21
Odds Ratio 1.48 [NR]


[PMID 23734777OA-icon.png] Lack of strong effect modification by NFE2L2/CYP3A5/ABO of the risk of venous thrombosis associated with oral hormone therapy.


[PMID 25210051] Genetic Variations Associated with Recurrent Venous Thrombosis