{{Rsnum
|rsid=505922
|Gene=ABO
|Chromosome=9
|position=133273813
|Orientation=plus
|GMAF=0.3484
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=ABO
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 12.4 | 47.8 | 39.8
| HCB | 15.3 | 43.1 | 41.6
| JPT | 15.9 | 52.2 | 31.9
| YRI | 10.2 | 44.2 | 45.6
| ASW | 12.3 | 42.1 | 45.6
| CHB | 15.3 | 43.1 | 41.6
| CHD | 9.2 | 45.9 | 45.0
| GIH | 19.8 | 42.6 | 37.6
| LWK | 7.3 | 50.0 | 42.7
| MEX | 12.1 | 24.1 | 63.8
| MKK | 9.0 | 42.9 | 48.1
| TSI | 19.6 | 34.3 | 46.1
| HapMapRevision=28
}}[http://blog.23andme.com/2009/08/03/snpwatch-genomewide-study-supports-blood-type-as-a-risk-factor-for-pancreatic-cancer/ 23andMe blog] each copy rs505922(C) is associated with 1.2x risk of [[pancreatic cancer]]

influences [[ABO blood group]]

{{PMID|18464913|OA=1
}} TNF-alpha ([[TNF]]) protein levels

{{PMID Auto GWAS
|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
|RiskAllele=C
|Pval=4E-15
|OR=1.81
|ORtxt=[1.56-2.11]
}}
{{PMID Auto GWAS
|PMID=18464913
|Trait=Protein quantitative trait loci
|Title=A Genome-Wide Association Study Identifies Protein Quantitative Trait Loci (pQTLs)
|RiskAllele=
|Pval=7.0000000000000003E-40
|OR=NR
|ORtxt=NR
|OA=1
}}

{{PMID Auto
|PMID=19648918
|Title=Genome-wide association study identifies variants in the ABO locus associated with susceptibility to pancreatic cancer
|OA=1
}}

{{PharmGKB
|RSID=rs505922
|Name_s=
|Gene_s=ABO
|Feature=
|Evidence=PubMed ID:19278955; Web Resource:http://www.genome.gov/gwastudies/
|Annotation=GWAS results: Common susceptibility allele are unlikely to contribute as strongly as the FV and ABO loci to VTE risk: results from a GWAS approach. (Initial Sample Size: 419 cases, 1,228 controls; Replication Sample Size: 1,757 cases, 1,480 controls); (Region: 9q34.2; Reported Gene(s): ABO; Risk Allele: rs505922-C); (p-value= 0.000000000000004).This variant is associated with Venous thromboembolism.
|Drugs=
|Drug Classes=
|Diseases=venous thromboembolism
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA164739926
}}

{{omim
|id=110300
|rsnum=505922
}}

{{omim
|id=260350
|rsnum=505922
}}

{{PMID Auto
|PMID=22147973
|Title=Pancreatic cancer risk variant ABO rs505922 in patients with cholangiocarcinoma
|OA=1
}}

{{PMID Auto GWAS
|PMID=21980494
|Trait=None
|Title=Genetics of venous thrombosis: insights from a new genome wide association study.
|RiskAllele=C
|Pval=1E-34
|OR=1.9200
|ORtxt=[NR]
|OA=1
}}

{{PMID Auto GWAS
|PMID=21841780
|Trait=None
|Title=A genome-wide association study identifies two new risk loci for Graves' disease.
|RiskAllele=T
|Pval=0.000008
|OR=1.1300
|ORtxt=[1.07-1.20]
}}

{{PMID Auto
|PMID=22387998
|Title=A genome-wide association study identifies two susceptibility loci for duodenal ulcer in the Japanese population
}}

{{PMID Auto
|PMID=22642827
|Title=Relationships between the ABO blood group SNP rs505922 and breast cancer phenotypes: a genotypephenotype correlation study
|OA=1
}}

{{PMID Auto
|PMID=22665904
|Title=A Replication Study and Genome-wide Scan of Single Nucleotide Polymorphisms Associated with Pancreatic Cancer Risk and Overall Survival
|OA=1
}}

{{PMID Auto
|PMID=18604267
|Title=Novel association of ABO histo-blood group antigen with soluble ICAM-1: results of a genome-wide association study of 6,578 women.
|OA=1
}}

{{PMID Auto
|PMID=19474294
|Title=Potential etiologic and functional implications of genome-wide association loci for human diseases and traits.
|OA=1
}}

{{PMID Auto
|PMID=19729612
|Title=Genome-wide association identifies the ABO blood group as a major locus associated with serum levels of soluble E-selectin.
|OA=1
}}

{{PMID Auto
|PMID=20101243
|Title=A genome-wide association study identifies pancreatic cancer susceptibility loci on chromosomes 13q22.1, 1q32.1 and 5p15.33.
|OA=1
}}

{{PMID Auto
|PMID=20686608
|Title=Genome-wide association study of pancreatic cancer in Japanese population.
|OA=1
}}

{{PMID Auto
|PMID=21306478
|Title=ABO blood group alleles and the risk of pancreatic cancer in a Japanese population.
}}

{{PMID Auto
|PMID=21792085
|Title=ABO blood group and chronic pancreatitis risk in the NAPS2 cohort.
|OA=1
}}

{{GET Evidence
|impact=pathogenic
|qualified_impact=Insufficiently evaluated pathogenic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs505922
|overall_frequency_n=44
|overall_frequency_d=128
|overall_frequency=0.34375
|n_genomes=29
|n_genomes_annotated=0
|n_haplomes=34
|n_articles=0
|n_articles_annotated=0
|in_gwas=Y
|in_pharmgkb=Y
|autoscore=2
|webscore=N
}}

{{PMID Auto
|PMID=23381943
|Title=Ischemic stroke is associated with the ABO locus: The EuroCLOT study
|OA=1
}}

{{PMID Auto
|PMID=23704932
|Title=Impact of PSCA Variation on Gastric Ulcer Susceptibility
|OA=1
}}

{{PMID Auto GWAS
  |PMID=23612905
  |Trait=Graves' disease
  |Title=Robust evidence for five new Graves' disease risk loci from a staged genome-wide association analysis.
  |RiskAllele=
  |Pval=2E-10
  |OR=1.14
  |ORtxt=[1.1-1.19]
  }}

{{PMID Auto
|PMID=23816557
|Title=Re-evaluation of ABO gene polymorphisms detected in a genome-wide association study and risk of pancreatic ductal adenocarcinoma in a Chinese population.
|OA=1
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Illumina Human 1M}}