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rs8176720

From SNPedia

Orientationminus
Stabilizedminus
Make rs8176720(A;A)
Make rs8176720(A;G)
Make rs8176720(G;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position133257486
GeneABO
is asnp
is mentioned by
dbSNPrs8176720
ebirs8176720
HLIrs8176720
Exacrs8176720
Varsomers8176720
Maprs8176720
PheGenIrs8176720
hapmaprs8176720
1000 genomesrs8176720
hgdprs8176720
ensemblrs8176720
gopubmedrs8176720
geneviewrs8176720
scholarrs8176720
googlers8176720
pharmgkbrs8176720
gwascentralrs8176720
openSNPrs8176720
23andMers8176720
23andMe allrs8176720
SNP Nexus

SNPshotrs8176720
SNPdbers8176720
MSV3drs8176720
GWAS Ctlgrs8176720
GMAF0.4275
Max Magnitude
? (A;A) (A;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.

[PMID 18940312OA-icon.png] Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes.

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

[PMID 19729612OA-icon.png] Genome-wide association identifies the ABO blood group as a major locus associated with serum levels of soluble E-selectin.


GET Evidence
ABO-H99R
aa_change His99Arg
aa_change_short H99R
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency
summary



GWAS snp
PMID [PMID 24094242OA-icon.png]
Trait Serum alkaline phosphatase levels
Title Genome-wide association study on serum alkaline phosphatase levels in a Chinese population.
Risk Allele C
P-val 3E-21
Odds Ratio .04 [0.033-0.049] U/L increase