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rs8176747

From SNPedia

Orientationminus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs8176747(C;C)
Make rs8176747(C;G)
ReferenceGRCh38 38.1/142
Chromosome9
Position133255928
GeneABO
is asnp
is mentioned by
dbSNPrs8176747
ebirs8176747
HLIrs8176747
Exacrs8176747
Varsomers8176747
Maprs8176747
PheGenIrs8176747
hapmaprs8176747
1000 genomesrs8176747
hgdprs8176747
ensemblrs8176747
gopubmedrs8176747
geneviewrs8176747
scholarrs8176747
googlers8176747
pharmgkbrs8176747
gwascentralrs8176747
openSNPrs8176747
23andMers8176747
23andMe allrs8176747
SNP Nexus

SNPshotrs8176747
SNPdbers8176747
MSV3drs8176747
GWAS Ctlgrs8176747
GMAF0.123
Max Magnitude0
? (C;C) (C;G) (G;G) 28

This SNP is in the ABO gene, and is therefore potentially useful in determing blood group type, such as through the use of genosets.

OMIM110300
Desc
Variant0004
Relatedalso
[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.


GET Evidence
ABO-G267A
aa_change Gly267Ala
aa_change_short G267A
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0987293
summary



ABO Blood Type


ClinVar
Risk rs8176747(C;C)
Alt rs8176747(C;C)
Reference rs8176747(G;G)
Significance Other
Disease ABO blood group system
Variation info
Gene ABO
CLNDBN ABO blood group system
Reversed 1
HGVS NC_000009.11:g.136131315C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000019312.3,