rs1138545

This is a variant in the TNC gene that changes a arginine to an histidine.

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GWAS Catalog Trait Associations (7)

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

prolargin measurement

Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)
Allele T
OR —
β 1.250
p —
N 3,301
Large GWAS
European

tenascin measurement

Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)
Allele T
OR 0.85
p 3.0e-167
N 3,301
Large GWAS
European
Thareja G et al. “Differences and commonalities in the genetic architecture of protein quantitative trait loci in European and Arab populations.” Human Molecular Genetics 32(6):907-916 (2023)
Allele T
OR 1.23
p 6.0e-139
N 2,935
Large GWAS
Greater Middle Eastern (Middle Eastern, North African or Persian)
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 T
OR 0.81
p 2.0e-22
N 466
Small GWAS
African American or Afro-Caribbean

GDP-fucose protein O-fucosyltransferase 2 measurement

Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)
Allele T
OR —
β 0.810
p 6.0e-146
N 3,301
Large GWAS
European

protein eva-1 homolog C measurement

Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)
Allele T
OR —
β 0.590
p 7.0e-73
N 3,301
Large GWAS
European

level of chymotrypsin-like elastase family member 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 T
OR 0.92
p 5.0e-30
N 466
Small GWAS
African American or Afro-Caribbean

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 0.82
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 0.31
p 5.0e-20
N 3,334
Large GWAS
European
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ClinVar annotation

Benign★★★☆
4 submitters1 publication

not provided; Cholangiocarcinoma; Uterine carcinosarcoma; not specified

View on ClinVar →
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Research that mentions this SNP (2)

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Exploring new genetic variants within COL5A1 intron 4‐exon 5 region and TGF‐β family with risk of anterior cruciate ligament ruptures
ReviewN=9,720Mary‐Jessica N. Laguette et al.(2020)· Journal of Orthopaedic Research

This systematic review analyzed 24 studies examining 31 genes and 62 genetic variants associated with anterior cruciate ligament rupture (ACLR). Key findings show mixed evidence for collagen variants: COL1A1 rs1800012 showed protective association in European ancestry populations (OR=2.8, p=0.040), while COL1A2 rs42524 and rs2621215 conferred increased risk (OR=5.73 and 4.29 respectively). VEGFA polymorphisms rs2010963 and rs699947 showed conflicting associations across studies, and most major variants in IL6, IL1B, MMP genes, and inflammatory markers showed no consistent associations with ACLR across populations, highlighting the need for gender and ancestry-stratified analyses.

Traits studied:Anterior cruciate ligament injury (ACLI)Anterior cruciate ligament rupture (ACLR)
PubMedDOIMetascience Observatory
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Investigation of variants within the COL27A1 and TNC genes and Achilles tendinopathy in two populations
AssociationN=890Colleen J. Saunders et al.(2013)· Journal of Orthopaedic Research

PhD dissertation examining genetic variants in collagen genes (COL22A1, COL27A1, COL11A1) and anterior cruciate ligament injury risk in Polish athletes. Paper 1 is a systematic review of genetic determinants of ACL rupture. Papers 2 and 3 are case-control association studies finding no significant associations between SNPs rs11784270/rs6577958 (COL22A1), rs946053 (COL27A1), and rs3753841 (COL11A1) and non-contact ACL injury risk in Polish athletes.

Traits studied:ACL ruptureAnterior cruciate ligament injuryNon-contact ACL injury
PubMedDOIMetascience Observatory

About TNC

This gene encodes an extracellular matrix protein with a spatially and temporally restricted tissue distribution. This protein is homohexameric with disulfide-linked subunits, and contains multiple EGF-like and fibronectin type-III domains. It is implicated in guidance of migrating neurons as well as axons during development, synaptic plasticity, and neuronal regeneration. [provided by RefSeq, Jul 2011]

View all TNC variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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