rs651007

This is a upstream gene variant variant.

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GWAS Catalog Trait Associations (26)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

E-selectin amount

Suhre K et al. “Connecting genetic risk to disease end points through the human blood plasma proteome.” Nature Communications 8:14357 (2017)
Allele T
OR 0.94
p 1.0e-96
N 997
Small GWAS
multi-ancestry
Qi L et al. “Genetic variants in ABO blood group region, plasma soluble E-selectin levels and risk of type 2 diabetes.” Human Molecular Genetics 19(9):1856-62 (2010)
Allele T
OR 17.23
p 2.0e-82
N 1,007
Large GWAS
European

alkaline phosphatase measurement

Li J et al. “Genome-wide association study on serum alkaline phosphatase levels in a Chinese population.” Bmc Genomics 14:684 (2013)
Allele A
OR 0.08
p 1.0e-56
N 1,452
Large GWAS
East Asian

insulin receptor measurement

Suhre K et al. “Connecting genetic risk to disease end points through the human blood plasma proteome.” Nature Communications 8:14357 (2017)
Allele T
OR 0.70
p 4.0e-44
N 997
Small GWAS
multi-ancestry

vascular endothelial growth factor receptor 3 level

Suhre K et al. “Connecting genetic risk to disease end points through the human blood plasma proteome.” Nature Communications 8:14357 (2017)
Allele T
OR 0.59
p 1.0e-31
N 997
Small GWAS
multi-ancestry

platelet glycoprotein 4 level

Suhre K et al. “Connecting genetic risk to disease end points through the human blood plasma proteome.” Nature Communications 8:14357 (2017)
Allele T
OR 0.54
p 1.0e-29
N 997
Small GWAS
multi-ancestry

endoglin measurement

Suhre K et al. “Connecting genetic risk to disease end points through the human blood plasma proteome.” Nature Communications 8:14357 (2017)
Allele T
OR 0.54
p 6.0e-26
N 997
Small GWAS
multi-ancestry

factor VIII measurement

Williams FM et al. “Ischemic stroke is associated with the <i>ABO</i> locus: The EuroCLOT study” Annals of Neurology (2013)
Allele C
OR 0.46
p 2.0e-25
N 2,100
Large GWAS
European

ADpSGEGDFXAEGGGVR measurement

Shin SY et al. “An atlas of genetic influences on human blood metabolites.” Nature Genetics 46(6):543-550 (2014)
Allele T
OR 0.07
p 6.0e-20
N 3,939
Large GWAS
European

hepatocyte growth factor receptor level

Suhre K et al. “Connecting genetic risk to disease end points through the human blood plasma proteome.” Nature Communications 8:14357 (2017)
Allele T
OR 0.44
p 3.0e-19
N 997
Small GWAS
multi-ancestry

coronary artery disease

Aragam KG et al. “Discovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants.” Nature Genetics 54(12):1803-1815 (2022)
Allele T
OR 1.05
p 1.0e-18
N 1,165,690
Large GWAS
European, NR
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Research that mentions this SNP (4)

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Genetic variants in five novel loci including CFB and CD40 predispose to chronic hepatitis B
AssociationN=6,033Jiang DK et al.(2015)· Hepatology

A genome-wide association study of 83 plasma proteins relevant to cardiovascular disease in 3,394 European subjects identified 79 genome-wide significant loci (p<5e-8), with 55 replicating in independent cohorts (n=2,639). Using eQTL analysis and network methods, the authors proposed plausible causal mechanisms for 25 trans-acting loci including post-translational regulation of KITLG by MMP9 and several receptor-ligand pairs. Multiple loci showed evidence of causal association with coronary artery disease risk.

Traits studied:AtherosclerosisCoronary artery diseasePlaque rupturePlasma protein levels (83 cardiovascular disease-related proteins)Thrombosis
PubMedDOIMetascience Observatory
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Ischemic stroke is associated with the ABO locus: The EuroCLOT study
AssociationN=63,100Williams FM et al.(2013)· Annals of Neurology

The EuroCLOT study identified genetic variants associated with coagulation factors in healthy volunteers and examined their association with ischemic stroke using a three-stage design (2,100 twins in discovery, 4,200 cases in stage 2, and 8,900 cases/55,000 controls in stage 3). The lead ABO locus SNP rs505922 showed significant association with ischemic stroke (OR=1.07, 95% CI=1.03-1.11, p=0.0006), with association specifically in cardioembolic and large-vessel stroke but not small-vessel disease. Two additional ABO SNPs (rs643434 and rs651007) also showed significant association.

Traits studied:Cardioembolic strokeD-dimer concentrationFXIII activityFactor VII clotting activityFactor VIIIIschemic strokeLarge-vessel strokeSmall-vessel diseasevon Willebrand Factor
PubMedDOIMetascience Observatory
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A Genome‐Wide Association Study for Serum Bilirubin Levels and Gene‐Environment Interaction in a Chinese Population
AssociationN=3,294Xiayun Dai et al.(2013)· Genetic Epidemiology

GWAS study of 3,294 European ancestry individuals from the eMERGE Network examining serum bilirubin and other liver function tests. Strong association signal at UGT1A1 locus (rs887829, beta=0.15, p=1.30×10^-118) confirmed in both adult and pediatric populations. Additional associations identified in SLCO1B1, SLCO1B3, TDRP, ZMYND8, and ABO locus. Phenome-wide analysis revealed protective effect of TA7 repeat against cerebrovascular disease (OR=0.75, p=0.0008).

Traits studied:ALTASTAlkaline phosphataseCerebrovascular diseaseGGTLiver function testsSerum bilirubin levels
PubMedDOIMetascience Observatory
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Genetic association analysis highlights new loci that modulate hematological trait variation in Caucasians and African Americans
AssociationN=30,551Ken Sin Lo et al.(2011)· Human Genetics

Genetic association study in 23,439 Caucasians and 7,112 African Americans identified novel loci modulating hematological traits. G6PD rs1050828 (Val68Met) shows strong association with red blood cell count, hemoglobin, hematocrit, and mean corpuscular volume in African Americans (P < 2.0 × 10^−13), while TPM4 rs8109288 associates with platelet count in both Caucasians and African Americans (P = 3.0 × 10^−7). HBA2-HBA1 rs1211375 associates with red blood cell traits specifically in African Americans (P < 7 × 10^−8). Study replicated 36 previously reported associations and highlights ethnic differences in genetic architecture of blood traits.

Traits studied:Basophil countEosinophil countHematocritHemoglobinLymphocyte countMean corpuscular hemoglobinMean corpuscular hemoglobin concentrationMean corpuscular volumeMean platelet volumeMonocyte countNeutrophil countPlatelet countRed blood cell countWhite blood cell count
PubMedDOIMetascience Observatory

This variant is in our database but has no known associations or PRS memberships yet.

Gene information from NCBI Gene. Variant classifications from ClinVar.

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