rs4074793

This is a intron variant variant in the ITGA1 gene.

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GWAS Catalog Trait Associations (7)

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

serum gamma-glutamyl transferase measurement

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 G
OR 0.07
p 4.0e-133
N 928,679
Large GWAS
multi-ancestry
Ghouse J et al. “Integrative common and rare variant analyses provide insights into the genetic architecture of liver cirrhosis.” Nature Genetics 56(5):827-837 (2024)
Allele G
OR 0.02
p 2.0e-95
N 875,069
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 7.0e-76
N 477,575
Large GWAS
multi-ancestry
Pazoki R et al. “Genetic analysis in European ancestry individuals identifies 517 loci associated with liver enzymes.” Nature Communications 12(1):2579 (2021)
Allele G
OR 0.02
p 2.0e-92
N 437,194
Large GWAS
European
Chambers JC et al. “Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.” Nature Genetics 43(11):1131-8 (2011)
Allele G
OR 5.50
p 3.0e-10
N 61,089
Large GWAS
multi-ancestry

cadherin-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 G
OR 0.10
p 3.0e-23
N 47,745
Large GWAS
European

serum alanine aminotransferase amount

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 0.03
p 1.0e-19
N 928,679
Large GWAS
multi-ancestry
Ghouse J et al. “Integrative common and rare variant analyses provide insights into the genetic architecture of liver cirrhosis.” Nature Genetics 56(5):827-837 (2024)
Allele A
OR 0.01
p 3.0e-15
N 1,010,710
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 A
OR 0.03
p 2.0e-12
N 494,681
Large GWAS
multi-ancestry
Pazoki R et al. “Genetic analysis in European ancestry individuals identifies 517 loci associated with liver enzymes.” Nature Communications 12(1):2579 (2021)
Allele A
OR 0.01
p 2.0e-14
N 437,267
Large GWAS
European
Chen VL et al. “Genome-wide association study of serum liver enzymes implicates diverse metabolic and liver pathology.” Nature Communications 12(1):816 (2021)
Allele A
OR 7.30
p 3.0e-13
N 390,812
Large GWAS
multi-ancestry

heel bone mineral density

Morris JA et al. “An atlas of genetic influences on osteoporosis in humans and mice.” Nature Genetics 51(2):258-266 (2019)
Allele A
OR 0.03
p 2.0e-15
N 426,824
Large GWAS
European

alkaline phosphatase 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 0.02
p 3.0e-13
N 394,642
Large GWAS
European
Chen VL et al. “Genome-wide association study of serum liver enzymes implicates diverse metabolic and liver pathology.” Nature Communications 12(1):816 (2021)
Allele G
OR 6.56
p 6.0e-11
N 390,964
Large GWAS
multi-ancestry

coronary artery disease

Tcheandjieu C et al. “Large-scale genome-wide association study of coronary artery disease in genetically diverse populations.” Nature Medicine 28(8):1679-1692 (2022)
Allele A
OR 0.04
p 1.0e-9
N 1,077,578
Large GWAS
multi-ancestry
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 A
OR 0.95
p 2.0e-8
N 1,165,690
Large GWAS
European, NR

About ITGA1

This gene encodes the alpha 1 subunit of integrin receptors. This protein heterodimerizes with the beta 1 subunit to form a cell-surface receptor for collagen and laminin. The heterodimeric receptor is involved in cell-cell adhesion and may play a role in inflammation and fibrosis. The alpha 1 subunit contains an inserted (I) von Willebrand factor type I domain which is thought to be involved in collagen binding. [provided by RefSeq, Jul 2008]

View all ITGA1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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