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rs8176746

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0
Make rs8176746(A;A)
Make rs8176746(A;C)
ReferenceGRCh38 38.1/142
Chromosome9
Position133255935
GeneABO
is asnp
is mentioned by
dbSNPrs8176746
ebirs8176746
HLIrs8176746
Exacrs8176746
Varsomers8176746
Maprs8176746
PheGenIrs8176746
hapmaprs8176746
1000 genomesrs8176746
hgdprs8176746
ensemblrs8176746
gopubmedrs8176746
geneviewrs8176746
scholarrs8176746
googlers8176746
pharmgkbrs8176746
gwascentralrs8176746
openSNPrs8176746
23andMers8176746
23andMe allrs8176746
SNP Nexus

SNPshotrs8176746
SNPdbers8176746
MSV3drs8176746
GWAS Ctlgrs8176746
GMAF0.123
Max Magnitude0
? (A;A) (A;C) (C;C) 28

This SNP is a variant in the ABO gene, and is therefore potentially useful in determining ABO blood group, such as through the use of genosets. 23andMe reports this as a G/T while decodeme reports it as a an A/C.

GWAS snp
PMID [PMID 20139978]
Trait Hematological and biochemical traits
Title Genome-wide association study of hematological and biochemical traits in a Japanese population
Risk Allele T
P-val 4E-8
Odds Ratio 0.21 [NR] % variance


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


[PMID 18604267OA-icon.png] Novel association of ABO histo-blood group antigen with soluble ICAM-1: results of a genome-wide association study of 6,578 women.


[PMID 20459687OA-icon.png] Candidate malaria susceptibility/protective SNPs in hospital and population-based studies: the effect of sub-structuring.


[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.


[PMID 21792085OA-icon.png] ABO blood group and chronic pancreatitis risk in the NAPS2 cohort.


[PMID 21832968] Pharmacogenetic predictors of angiotensin-converting enzyme inhibitor-induced cough: the role of ACE, ABO, and BDKRB2 genes.


[PMID 22258027] A common variant of the ABO gene protects against hypertension in a Spanish population.


GET Evidence
ABO-L265M
aa_change Leu265Met
aa_change_short L265M
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.100913
summary