rs4745

This is a variant in the EFNA1 gene that changes a aspartate to an valine.

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GWAS Catalog Trait Associations (5)

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

trypsin-2 measurement

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 0.04
p 5.0e-12
N 47,745
Large GWAS
European

body mass index

Huang J et al. “Genomics and phenomics of body mass index reveals a complex disease network.” Nature Communications 13(1):7973 (2022)
Allele T
OR 0.01
p 1.0e-11
N 1,122,049
Large GWAS
European

low density lipoprotein cholesterol measurement

Liu DJ et al. “Exome-wide association study of plasma lipids in >300,000 individuals.” Nature Genetics 49(12):1758-1766 (2017)
Allele T
OR 0.01
p 3.0e-10
N 297,824
Large GWAS
multi-ancestry

bladder exstrophy

Mingardo E et al. “A genome-wide association study with tissue transcriptomics identifies genetic drivers for classic bladder exstrophy.” Communications Biology 5(1):1203 (2022)
Allele T
OR 1.50
p 4.0e-10
N 7,980
Large GWAS
European

electrocardiography

Verweij N et al. “The Genetic Makeup of the Electrocardiogram.” Cell Systems 11(3):229-238.e5 (2020)
Allele A
OR 0.03
p 4.0e-8
N 63,706
Major Consortium StudyLarge GWAS
European, NR
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ClinVar annotation

Benign★★★☆
2 submitters1 publication
View on ClinVar →
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Research that mentions this SNP (1)

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G‐A variant in miR‐200c binding site of EFNA1 alters susceptibility to gastric cancer
MethodsN=5,542Yingfei Li et al.(2014)· Molecular Carcinogenesis

Pathway analysis of a gastric cancer GWAS dataset using ICSNPathway identified 7 candidate SNPs (rs4745, rs12904, rs1801019, rs364897, rs11187870, rs2274223, rs3765524) in 4 genes (EFNA1, UMPS, GBA, PLCE1) and 12 biological pathways. Four hypothetical mechanisms were proposed: ephrin receptor binding via EFNA1, pyrimidine metabolism via UMPS, cyanoamino acid metabolism via GBA, and cell growth/lipid biosynthesis via PLCE1.

Traits studied:Gastric cancer
PubMedDOIMetascience Observatory

About EFNA1

This gene encodes a member of the ephrin (EPH) family. The ephrins and EPH-related receptors comprise the largest subfamily of receptor protein-tyrosine kinases and have been implicated in mediating developmental events, especially in the nervous system and in erythropoiesis. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. This gene encodes an EFNA class ephrin which binds to the EPHA2, EPHA4, EPHA5, EPHA6, and EPHA7 receptors. Two transcript variants that encode different isoforms were identified through sequence analysis. [provided by RefSeq, Jul 2008]

View all EFNA1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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