rs657152

Homo sapiens
A>C / A>T
ABO : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0411 (12331/29934,GnomAD)
A=0408 (11885/29118,TOPMED)
A=0391 (1956/5008,1000G)
chr9:133263862 (GRCh38.p7) (9q34.2)
AD
GWASdb2
See rs on genome
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 9NC_000009.12:g.133263862A>C
GRCh38.p7 chr 9NC_000009.12:g.133263862A>T
GRCh37.p13 chr 9 fix patch HG79_PATCHNW_003315925.1:g.89956A>C
GRCh37.p13 chr 9 fix patch HG79_PATCHNW_003315925.1:g.89956A>T
GRCh38.p7 chr 9 fix patch HG2030_PATCHNW_009646201.1:g.89956A>C
GRCh38.p7 chr 9 fix patch HG2030_PATCHNW_009646201.1:g.89956A>T
GRCh37.p13 chr 9NC_000009.11:g.136139265C>A
GRCh37.p13 chr 9NC_000009.11:g.136139265C>T

Gene: ABO, ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)(minus strand)

Molecule type Change Amino acid[Codon] SO Term
ABO transcriptNM_020469.2:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.539A==0.461
1000GenomesAmericanSub694C=0.750A==0.250
1000GenomesEast AsianSub1008C=0.628A==0.372
1000GenomesEuropeSub1006C=0.600A==0.400
1000GenomesGlobalStudy-wide5008C=0.609A==0.391
1000GenomesSouth AsianSub978C=0.600A==0.400
The Genome Aggregation DatabaseAfricanSub8714C=0.555A==0.445
The Genome Aggregation DatabaseAmericanSub836C=0.720A==0.280
The Genome Aggregation DatabaseEast AsianSub1620C=0.633A==0.367
The Genome Aggregation DatabaseEuropeSub18464C=0.594A==0.405
The Genome Aggregation DatabaseGlobalStudy-wide29934C=0.588A==0.411
The Genome Aggregation DatabaseOtherSub300C=0.560A==0.440
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.591A==0.408
PMID Title Author Journal
23816557Re-evaluation of ABO gene polymorphisms detected in a genome-wide association study and risk of pancreatic ductal adenocarcinoma in a Chinese population.Xu HLChin J Cancer
21463476Genetic variation within the anticoagulant, procoagulant, fibrinolytic and innate immunity pathways as risk factors for venous thromboembolism.Heit JAJ Thromb Haemost
23707316High intestinal cholesterol absorption is associated with cardiovascular disease and risk alleles in ABCG8 and ABO: evidence from the LURIC and YFS cohorts and from a meta-analysis.Silbernagel GJ Am Coll Cardiol
19474294Potential etiologic and functional implications of genome-wide association loci for human diseases and traits.Hindorff LAProc Natl Acad Sci U S A
23133757ABO Blood Groups and Cardiovascular Diseases.Zhang HInt J Vasc Med
25025429Single nucleotide polymorphisms with cis-regulatory effects on long non-coding transcripts in human primary monocytes.Almlof JCPLoS One
20833654Mapping of numerous disease-associated expression polymorphisms in primary peripheral blood CD4+ lymphocytes.Murphy AHum Mol Genet
22125638Pancreatic cancer susceptibility loci and their role in survival.Rizzato CPLoS One
22025780FUT2 nonsecretor status links type 1 diabetes susceptibility and resistance to infection.Smyth DJDiabetes
20103627Pancreatic cancer risk and ABO blood group alleles: results from the pancreatic cancer cohort consortium.Wolpin BMCancer Res
24586218Pleiotropic effect of common variants at ABO Glycosyltranferase locus in 9q32 on plasma levels of pancreatic lipase and angiotensin converting enzyme.-PLoS One
26286125Coagulation factor XII genetic variation, ex vivo thrombin generation, and stroke risk in the elderly: results from the Cardiovascular Health Study.Olson NCJ Thromb Haemost
21239051Identification of ADAMTS7 as a novel locus for coronary atherosclerosis and association of ABO with myocardial infarction in the presence of coronary atherosclerosis: two genome-wide association studies.Reilly MPLancet
21980494Genetics of venous thrombosis: insights from a new genome wide association study.Germain MPLoS One
20529992Genetic regulation of serum phytosterol levels and risk of coronary artery disease.Teupser DCirc Cardiovasc Genet
19648918Genome-wide association study identifies variants in the ABO locus associated with susceptibility to pancreatic cancer.Amundadottir LNat Genet
21529783A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications.Heath ACBiol Psychiatry
18940312Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes.Yuan XAm J Hum Genet
26888256Novel genetic predictors of venous thromboembolism risk in African Americans.Hernandez WBlood
20648472PNPLA3 variants specifically confer increased risk for histologic nonalcoholic fatty liver disease but not metabolic disease.Speliotes EKHepatology
25436638Genetic variants associated with serum thyroid stimulating hormone (TSH) levels in European Americans and African Americans from the eMERGE Network.Malinowski JRPLoS One
20147318Genetic variants in ABO blood group region, plasma soluble E-selectin levels and risk of type 2 diabetes.Qi LHum Mol Genet
21084706Genetic regulation of platelet receptor expression and function: application in clinical practice and drug development.Williams MSArterioscler Thromb Vasc Biol
23152778Establishment and characterization of a highly tumourigenic and cancer stem cell enriched pancreatic cancer cell line as a well defined model system.Fredebohm JPLoS One
22523087Pathway analysis of genome-wide association study data highlights pancreatic development genes as susceptibility factors for pancreatic cancer.Li DCarcinogenesis
18514160Phosphodiesterase 8B gene variants are associated with serum TSH levels and thyroid function.Arnaud-Lopez LAm J Hum Genet
19729612Genome-wide association identifies the ABO blood group as a major locus associated with serum levels of soluble E-selectin.Paterson ADArterioscler Thromb Vasc Biol
23408906A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.Porcu EPLoS Genet
26111702Pancreatic cancer-associated gene polymorphisms in a nation-wide cohort of p16-Leiden germline mutation carriers; a case-control study.Potjer TPBMC Res Notes
21534939Genetic variants associated with Von Willebrand factor levels in healthy men and women identified using the HumanCVD BeadChip.Zabaneh DAnn Hum Genet
18604267Novel association of ABO histo-blood group antigen with soluble ICAM-1: results of a genome-wide association study of 6,578 women.Pare GPLoS Genet
22291609A genome-wide association scan on the levels of markers of inflammation in Sardinians reveals associations that underpin its complex regulation.Naitza SPLoS Genet
23251661Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.Comuzzie AGPLoS One
21829393Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.Plagnol VPLoS Genet

P-Value

SNP ID p-value Traits Study
rs6571524.1E-05alcoholism (heaviness of drinking)21529783

eQTL of rs657152 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
There is no eQTL annotation for this SNP

meQTL of rs657152 in Fetal Brain

Probe ID Position Gene beta p-value
There is no meQTL annotation for this SNP

Genomic View

Chromatin Interaction

There is no significant Hi-C chromatin interaction data for this SNP.

Enhancer Annotation (GRCh37.p13)

Chromosome Start End Region Distance ( -/+ : Up/Downstream )
chr98241622382416273E06811723
chr98243238582432965E06827885
chr98243302882433257E06828528
chr98235643482356530E071-47970
chr98235663082356676E071-47824
chr98235669382357870E071-46630
chr98243231182432364E07127811
chr98243238582432965E07127885
chr98243302882433257E07128528
chr98235669382357870E073-46630
chr98235669382357870E081-46630
chr98235808182358146E081-46354
chr98241466282415333E08110162
chr98241552782415587E08111027
chr98242056482420717E08116064
chr98242073082421112E08116230
chr98242113982421226E08116639
chr98242287082422925E08118370
chr98242296782423298E08118467
chr98242346982423519E08118969
chr98243238582432965E08127885
chr98244454882445473E08140048
chr98241466282415333E08210162
chr98241552782415587E08211027
chr98242113982421226E08216639
chr98242135882421558E08216858
chr98242287082422925E08218370