rs4760

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GWAS Catalog Trait Associations (60)

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

endoglin measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele G

OR 0.20

p 6.0e-195

N 47,745

Large GWAS

European

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)

Allele G

OR 0.21

p 3.0e-33

N 10,708

Large GWAS

European

neutrophil count

Chen MH et al. “Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.” Cell 182(5):1198-1213.e14 (2020)

Allele G

OR 0.08

p 1.0e-171

N 519,288

Large GWAS

European

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)

Allele G

OR 0.07

p 2.0e-89

N 432,666

Large GWAS

multi-ancestry

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)

Allele G

OR 0.08

p 9.0e-136

N 408,112

Large GWAS

European

Xiang R et al. “Genome-wide analyses of variance in blood cell phenotypes provide new insights into complex trait biology and prediction.” Nature Communications 16(1):4260 (2025)

Allele G

OR 0.02

p 7.0e-11

N 406,787

Large GWAS

European

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele G

OR 0.06

p 4.0e-115

N 394,642

Large GWAS

European

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)

Allele G

OR 0.05

p 8.0e-36

N 274,370

Major Consortium StudyLarge GWAS

European

Kachuri L et al. “Genetic determinants of blood-cell traits influence susceptibility to childhood acute lymphoblastic leukemia.” American Journal of Human Genetics 108(10):1823-1835 (2021)

Allele G

OR —

p 4.0e-54

N 234,802

Large GWAS

European

Astle WJ et al. “The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.” Cell 167(5):1415-1429.e19 (2016)

Allele G

OR 0.09

p 1.0e-68

N 170,702

Large GWAS

European

blood protein amount

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele G

OR 0.17

p 4.0e-156

N 47,745

Large GWAS

European

leukocyte quantity

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)

Allele A

OR 0.10

p 7.0e-142

N 381,267

Major Consortium StudyLarge GWAS

European

Jee YH et al. “Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures.” Nature Communications 16(1):4935 (2025)

Allele A

OR 0.06

p 3.0e-86

N 928,679

Large GWAS

multi-ancestry

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)

Allele A

OR 0.06

p 6.0e-72

N 504,825

Large GWAS

multi-ancestry

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)

Allele A

OR 0.07

p 2.0e-121

N 408,112

Large GWAS

European

Xiang R et al. “Genome-wide analyses of variance in blood cell phenotypes provide new insights into complex trait biology and prediction.” Nature Communications 16(1):4260 (2025)

Allele A

OR 0.02

p 8.0e-12

N 408,031

Large GWAS

European

Astle WJ et al. “The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.” Cell 167(5):1415-1429.e19 (2016)

Allele A

OR 0.08

p 5.0e-59

N 172,435

Large GWAS

European

TNF-related apoptosis-inducing ligand measurement

Folkersen L et al. “Genomic and drug target evaluation of 90 cardiovascular proteins in 30,931 individuals.” Nature Metabolism 2(10):1135-1148 (2020)

Allele A

OR 0.34

p 2.0e-125

N 21,758

Large GWAS

European

Zhao JH et al. “Genetics of circulating inflammatory proteins identifies drivers of immune-mediated disease risk and therapeutic targets.” Nature Immunology 24(9):1540-1551 (2023)

Allele A

OR 0.35

p 1.0e-105

N 14,735

Large GWAS

multi-ancestry

Caron B et al. “Integrative genetic and immune cell analysis of plasma proteins in healthy donors identifies novel associations involving primary immune deficiency genes.” Genome Medicine 14(1):28 (2022)

Allele A

OR 0.32

p 2.0e-13

N 400

Small GWAS

European

urokinase-type plasminogen activator measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele G

OR 0.17

p 3.0e-115

N 47,745

Large GWAS

European

carbonic anhydrase 4 measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele G

OR 0.15

p 2.0e-103

N 47,745

Large GWAS

European

level of Toll-like receptor 3 in blood

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele G

OR 0.08

p 8.0e-91

N 47,745

Large GWAS

European

level of prostate stem cell antigen in blood

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele G

OR 0.04

p 7.0e-83

N 47,745

Large GWAS

European

neutrophil count, basophil count

Astle WJ et al. “The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.” Cell 167(5):1415-1429.e19 (2016)

Allele G

OR 0.09

p 5.0e-68

N 170,143

Large GWAS

European

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Research that mentions this SNP (1)

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Genetic evidence implicating multiple genes in the MET receptor tyrosine kinase pathway in autism spectrum disorder

AssociationN=2,712Daniel B. Campbell et al.(2008)· Autism Research

This study examined variants in five genes encoding proteins in the MET receptor tyrosine kinase signaling pathway (MET, HGF, PLAUR, SERPINE1, SP1, SUB1) in 664 autism spectrum disorder (ASD) families (2,712 individuals including 1,228 with ASD) and 312 controls. Family-based association testing confirmed that the MET rs1858830 C allele was significantly associated with ASD (P=0.008), with stronger evidence in multiplex families (P=0.001), and showed a relative risk of 1.76 (95% CI: 1.19-2.62) for CC genotype. The PLAUR promoter variant rs344781 T allele also showed significant association with ASD (FBAT P=0.006, case-control P=0.007) with relative risks of 1.93-2.42, and demonstrated functional relevance through luciferase assays. Other genes in the pathway showed no significant associations.

Traits studied:Autism Spectrum Disorder

PubMed DOI Metascience Observatory

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

rs4760

GWAS Catalog Trait Associations (60)

endoglin measurement

neutrophil count

blood protein amount

leukocyte quantity

TNF-related apoptosis-inducing ligand measurement

urokinase-type plasminogen activator measurement

carbonic anhydrase 4 measurement

level of Toll-like receptor 3 in blood

level of prostate stem cell antigen in blood

neutrophil count, basophil count

Research that mentions this SNP (1)

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