rs2306272
This variant is located in the LRIG1 gene.
▶GWAS Catalog Trait Associations (8)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (8)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
protein measurement
Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele T
OR 0.79
p —
N 10,708
Large GWAS
European
Western D et al. “Proteogenomic analysis of human cerebrospinal fluid identifies neurologically relevant regulation and implicates causal proteins for Alzheimer's disease.” Nature Genetics 56(12):2672-2684 (2024)
Allele T
OR 0.29
p 4.0e-22
N 2,721
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 C
OR 0.01
p 1.0e-14
N 1,122,049
Large 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 C
OR 0.01
p 1.0e-11
N 928,679
Large GWAS
multi-ancestry
level of leucine-rich repeats and immunoglobulin-like domains protein 1 in blood serum
Surapaneni A et al. “Identification of 969 protein quantitative trait loci in an African American population with kidney disease attributed to hypertension.” Kidney International 102(5):1167-1177 (2022)
Allele C
OR 0.66
p 5.0e-14
N 466
Small GWAS
African American or Afro-Caribbean
level of beta-defensin 125 in blood serum
Kuliesius J et al. “Efficient candidate drug target discovery through proteogenomics in a Scottish cohort.” Communications Biology 8(1):1300 (2025)
Allele C
OR 0.72
p 3.0e-13
N 189
Small GWAS
European
ascending aorta diameter
Pirruccello JP et al. “Deep learning enables genetic analysis of the human thoracic aorta.” Nature Genetics 54(1):40-51 (2022)
Allele T
OR —
p 2.0e-11
N 38,694
Large GWAS
European
Pirruccello JP et al. “The Genetic Determinants of Aortic Distention.” Journal of the American College of Cardiology 81(14):1320-1335 (2023)
Allele T
OR 0.04
p 3.0e-10
N 38,372
Large GWAS
European, NR
atrial fibrillation
Roselli C et al. “Multi-ethnic genome-wide association study for atrial fibrillation.” Nature Genetics 50(9):1225-1233 (2018)
Allele C
OR 1.05
p 5.0e-11
N 588,190
Large GWAS
multi-ancestry
cerebellar volume measurement
Moberget T et al. “The genetic architecture of human cerebellar morphology supports a key role for the cerebellum in human evolution and psychopathology.” Communications Biology 9(1) (2026)
Allele C
OR —
p 2.0e-10
N 27,302
Large GWAS
European
cerebral cortex area attribute
van der Meer D et al. “The genetic architecture of human cortical folding.” Science Advances 7(51):eabj9446 (2021)
Allele C
OR 5.77
p 8.0e-9
N 33,748
Large GWAS
European
▶ClinVar annotation
Benign★★★☆
3 submitters2 publicationsnot specified; LRIG1-related disorder; not provided
View on ClinVar →About LRIG1
Predicted to act upstream of or within several processes, including innervation; otolith morphogenesis; and sensory perception of sound. Predicted to be located in plasma membrane. Predicted to be active in extracellular matrix and extracellular space. [provided by Alliance of Genome Resources, Jul 2025]
View all LRIG1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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