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rs8176750

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs8176750(-;-)
Make rs8176750(-;C)
ReferenceGRCh38 38.1/141
Chromosome9
Position133255672
GeneABO
is asnp
is mentioned by
dbSNPrs8176750
ebirs8176750
HLIrs8176750
Exacrs8176750
Varsomers8176750
Maprs8176750
PheGenIrs8176750
hapmaprs8176750
1000 genomesrs8176750
hgdprs8176750
ensemblrs8176750
gopubmedrs8176750
geneviewrs8176750
scholarrs8176750
googlers8176750
pharmgkbrs8176750
gwascentralrs8176750
openSNPrs8176750
23andMers8176750
23andMe allrs8176750
SNP Nexus

SNPshotrs8176750
SNPdbers8176750
MSV3drs8176750
GWAS Ctlgrs8176750
GMAF0.04867
Max Magnitude0
This SNP is in the ABO gene, and is therefore potentially useful in determing blood group type, such as through the use of genosets.

This particular SNP can be useful in determining whether an ABO type A allele is more specifically an A1 type allele or an A2 type allele.

The more common allele (80% of A types on average) is A1, consistent with having a rs8176750(C) allele, with the rarer A2 allele encoded by the deletion form rs8176750(-). This is the key defining characteristic between an A1 and an A2 allele.[PMID 1520322]


GET Evidence
ABO-P353Shift
aa_change Pro353Shift
aa_change_short P353Shift
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.00819672
summary