rs5745687

This variant is located in the HGF gene.

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GWAS Catalog Trait Associations (5)

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

hepatocyte growth factor level

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.16
p 4.0e-52
N 47,745
Large GWAS
European
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 T
OR 0.21
p 4.0e-24
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 T
OR 0.19
p 1.0e-15
N 14,734
Large GWAS
multi-ancestry
Ahola-Olli AV et al. “Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors.” American Journal of Human Genetics 100(1):40-50 (2017)
Allele T
OR 0.31
p 3.0e-14
N 8,292
Large GWAS
European

vascular endothelial growth factor A level, hepatocyte growth factor level

Lieb W et al. “Genome-wide association study for endothelial growth factors.” Circulation. Cardiovascular Genetics 8(2):389-97 (2015)
Allele T
OR 0.10
p 4.0e-19
N 3,574
Large GWAS
European

serum albumin amount

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele T
OR 0.03
p 9.0e-11
N 325,292
Major Consortium StudyLarge GWAS
multi-ancestry

sex hormone-binding globulin measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele T
OR 0.03
p 2.0e-9
N 322,484
Major Consortium StudyLarge GWAS
multi-ancestry

calcium measurement

Young WJ et al. “Genetically Determined Serum Calcium Levels and Markers of Ventricular Repolarization: A Mendelian Randomization Study in the UK Biobank.” Circulation. Genomic and Precision Medicine 14(3):e003231 (2021)
Allele T
OR 0.00
p 1.0e-8
N 305,349
Major Consortium StudyLarge GWAS
European
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ClinVar annotation

Likely Benign★★★☆
8 submitters3 publications

not specified; Nonsyndromic Hearing Loss, Mixed; not provided

View on ClinVar →
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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
PubMedDOIMetascience Observatory

About HGF

This gene encodes a protein that binds to the hepatocyte growth factor receptor to regulate cell growth, cell motility and morphogenesis in numerous cell and tissue types. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate alpha and beta chains, which form the mature heterodimer. This protein is secreted by mesenchymal cells and acts as a multi-functional cytokine on cells of mainly epithelial origin. This protein also plays a role in angiogenesis, tumorogenesis, and tissue regeneration. Although the encoded protein is a member of the peptidase S1 family of serine proteases, it lacks peptidase activity. Mutations in this gene are associated with nonsyndromic hearing loss. [provided by RefSeq, Nov 2015]

View all HGF variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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