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

rs505922

From SNPedia

=Novel association of ABO histo-blood group antigen with soluble ICAM-1: results of a genome-wide association study of 6,578 women. |OA=

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 2.1 blood type is not O, increased risk for some diseases.
(C;T) 1.2x risk of pancreatic cancer
(T;T) 2 blood type O
ReferenceGRCh38 38.1/141
Chromosome9
Position133273813
GeneABO
is asnp
is mentioned by
dbSNPrs505922
ebirs505922
HLIrs505922
Exacrs505922
Varsomers505922
Maprs505922
PheGenIrs505922
hapmaprs505922
1000 genomesrs505922
hgdprs505922
ensemblrs505922
gopubmedrs505922
geneviewrs505922
scholarrs505922
googlers505922
pharmgkbrs505922
gwascentralrs505922
openSNPrs505922
23andMers505922
23andMe allrs505922
SNP Nexus

SNPshotrs505922
SNPdbers505922
MSV3drs505922
GWAS Ctlgrs505922
GMAF0.3484
Max Magnitude2.1
? (C;C) (C;T) (T;T) 28
23andMe blog each copy rs505922(C) is associated with 1.2x risk of pancreatic cancer

influences ABO blood group


[PMID 18464913OA-icon.png]

[PMID 25656610] Association between ABO gene polymorphism (rs505922) and cancer risk: a meta-analysis

[PMID 23816557OA-icon.png] Re-evaluation of ABO gene polymorphisms detected in a genome-wide association study and risk of pancreatic ductal adenocarcinoma in a Chinese population.

[PMID 23704932OA-icon.png] Impact of PSCA Variation on Gastric Ulcer Susceptibility

[PMID 23381943OA-icon.png] Ischemic stroke is associated with the ABO locus: The EuroCLOT study

[PMID 22665904OA-icon.png] A Replication Study and Genome-wide Scan of Single Nucleotide Polymorphisms Associated with Pancreatic Cancer Risk and Overall Survival

[PMID 22642827OA-icon.png] Relationships between the ABO blood group SNP rs505922 and breast cancer phenotypes: a genotypephenotype correlation study

[PMID 22387998] A genome-wide association study identifies two susceptibility loci for duodenal ulcer in the Japanese population

[PMID 22147973OA-icon.png] Pancreatic cancer risk variant ABO rs505922 in patients with cholangiocarcinoma

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

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

[PMID 20686608OA-icon.png] Genome-wide association study of pancreatic cancer in Japanese population.

[PMID 20101243OA-icon.png] A genome-wide association study identifies pancreatic cancer susceptibility loci on chromosomes 13q22.1, 1q32.1 and 5p15.33.

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

[PMID 19648918OA-icon.png] Genome-wide association study identifies variants in the ABO locus associated with susceptibility to pancreatic cancer

[PMID 19474294OA-icon.png] Potential etiologic and functional implications of genome-wide association loci for human diseases and traits.

[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.

GWAS snp
PMID [PMID 19278955]
Trait Venous thromboembolism
Title Common susceptibility allele are unlikely to contribute as strongly as the FV and ABO loci to VTE risk: results from a GWAS approach
Risk Allele C
P-val 4E-15
Odds Ratio 1.81 [1.56-2.11]
GWAS snp
PMID [PMID 18464913OA-icon.png]
Trait Protein quantitative trait loci
Title A Genome-Wide Association Study Identifies Protein Quantitative Trait Loci (pQTLs)
Risk Allele
P-val 7.0000000000000003E-40
Odds Ratio NR NR


OMIM110300
Desc
Variant
Relatedalso
OMIM260350
Desc
Variant
Relatedalso
GWAS snp
PMID [PMID 21980494OA-icon.png]
Trait
Title Genetics of venous thrombosis: insights from a new genome wide association study.
Risk Allele C
P-val 1E-34
Odds Ratio 1.9200 [NR]
GWAS snp
PMID [PMID 21841780]
Trait
Title A genome-wide association study identifies two new risk loci for Graves' disease.
Risk Allele T
P-val 0.000008
Odds Ratio 1.1300 [1.07-1.20]


GET Evidence
rs505922
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.34375
summary



GWAS snp
PMID [PMID 23612905]
Trait Graves' disease
Title Robust evidence for five new Graves' disease risk loci from a staged genome-wide association analysis.
Risk Allele
P-val 2E-10
Odds Ratio 1.14 [1.1-1.19]


[PMID 26924317] Fine-Mapping of ABO Gene Identifies Two Novel SNPs Associated with Large Artery Atherosclerotic Stroke in a Chinese Han Population.