rs12193446

This is a regulatory region variant variant in the LAMA2 gene.

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GWAS Catalog Trait Associations (8)

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

refractive error

Han X et al. “Association of Myopia and Intraocular Pressure With Retinal Detachment in European Descent Participants of the UK Biobank Cohort: A Mendelian Randomization Study.” Jama Ophthalmology 138(6):671-678 (2020)
Allele G
OR 0.42
p 4.0e-107
N 95,827
Major Consortium StudyLarge GWAS
European
Clark R et al. “Education interacts with genetic variants near GJD2, RBFOX1, LAMA2, KCNQ5 and LRRC4C to confer susceptibility to myopia.” Plos Genetics 18(11):e1010478 (2022)
Allele G
OR —
β 0.414
p 7.0e-85
N 88,334
Large GWAS
European
Tedja MS et al. “Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error.” Nature Genetics 50(6):834-848 (2018)
Allele G
OR 0.22
p 1.0e-16
N 66,127
Meta-analysisLarge GWAS
multi-ancestry

age at onset, Myopia

Tedja MS et al. “Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error.” Nature Genetics 50(6):834-848 (2018)
Allele A
OR 0.25
p 4.0e-86
N 104,293
Meta-analysisLarge GWAS
European

refractive error, age at onset, Myopia

Tedja MS et al. “Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error.” Nature Genetics 50(6):834-848 (2018)
Allele A
OR 19.43
p 4.0e-84
N 170,420
Meta-analysisLarge GWAS
multi-ancestry

Myopia

Xue Z et al. “Genome-wide association meta-analysis of 88,250 individuals highlights pleiotropic mechanisms of five ocular diseases in UK Biobank.” Ebiomedicine 82:104161 (2022)
Allele G
OR 0.33
p 6.0e-62
N 64,268
Meta-analysisMajor Consortium StudyLarge 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 0.16
p 1.0e-43
N 398,816
Major Consortium StudyLarge GWAS
European
Boutin TS et al. “Insights into the genetic basis of retinal detachment.” Human Molecular Genetics 29(4):689-702 (2020)
Allele G
OR 1.72
p 7.0e-23
N 50,372
Large GWAS
European

Hypermetropia

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 0.11
p 3.0e-29
N 394,687
Major Consortium StudyLarge GWAS
European

age at onset, eye 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 0.04
p 3.0e-27
N 394,642
Large GWAS
European

axial length measurement

Jiang C et al. “A multiethnic genome-wide analysis of 19,420 individuals identifies novel loci associated with axial length and shared genetic influences with refractive error and myopia.” Frontiers in Genetics 14:1113058 (2023)
Allele G
OR 0.17
p 5.0e-14
N 19,420
Large GWAS
multi-ancestry
Cheng CY et al. “Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error.” American Journal of Human Genetics 93(2):264-77 (2013)
Allele G
OR 0.12
p 1.0e-8
N 12,531
Large GWAS
multi-ancestry

About LAMA2

Laminin, an extracellular protein, is a major component of the basement membrane. It is thought to mediate the attachment, migration, and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components. It is composed of three subunits, alpha, beta, and gamma, which are bound to each other by disulfide bonds into a cross-shaped molecule. This gene encodes the alpha 2 chain, which constitutes one of the subunits of laminin 2 (merosin) and laminin 4 (s-merosin). Mutations in this gene have been identified as the cause of congenital merosin-deficient muscular dystrophy. Two transcript variants encoding different proteins have been found for this gene. [provided by RefSeq, Jul 2008]

View all LAMA2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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