rs508487

This is a downstream gene variant variant in the TAGLN gene.

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GWAS Catalog Trait Associations (6)

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

total cholesterol measurement

Hoffmann TJ et al. “A large electronic-health-record-based genome-wide study of serum lipids.” Nature Genetics 50(3):401-413 (2018)
Allele C
OR —
β 0.072
p 6.0e-11
N 94,674
Large GWAS
multi-ancestry

fatty acid amount

Sun Y et al. “GWAS and multi-omics integrative analysis reveal novel loci and their molecular mechanisms for circulating fatty acids.” Hgg Advances 6(4):100470 (2025)
Allele T
OR —
p 2.0e-14
N 239,268
Large GWAS
European

high density lipoprotein cholesterol measurement

Hoffmann TJ et al. “A large electronic-health-record-based genome-wide study of serum lipids.” Nature Genetics 50(3):401-413 (2018)
Allele C
OR —
β 0.067
p 2.0e-13
N 94,674
Large GWAS
multi-ancestry

triglyceride measurement

Hoffmann TJ et al. “A large electronic-health-record-based genome-wide study of serum lipids.” Nature Genetics 50(3):401-413 (2018)
Allele C
OR 0.19
p 9.0e-85
N 94,674
Large GWAS
multi-ancestry
Middelberg RP et al. “Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits.” Bmc Medical Genetics 12:123 (2011)
Allele C
OR 0.23
p 2.0e-10
N 11,683
Large GWAS
European
Read RW et al. “Genome-Wide Identification of Rare and Common Variants Driving Triglyceride Levels in a Nevada Population.” Frontiers in Genetics 12:639418 (2021)
Allele C
OR 14.80
p 4.0e-30
N 9,183
Large GWAS
European
Kurano M et al. “Genome-wide association study of serum lipids confirms previously reported associations as well as new associations of common SNPs within PCSK7 gene with triglyceride.” Journal of Human Genetics 61(5):427-33 (2016)
Allele C
OR 0.06
p 8.0e-9
N 2,994
Large GWAS
East Asian

About TAGLN

This gene encodes a shape change and transformation sensitive actin-binding protein which belongs to the calponin family. It is ubiquitously expressed in vascular and visceral smooth muscle, and is an early marker of smooth muscle differentiation. The encoded protein is thought to be involved in calcium-independent smooth muscle contraction. It acts as a tumor suppressor, and the loss of its expression is an early event in cell transformation and the development of some tumors, coinciding with cellular plasticity. The encoded protein has a domain architecture consisting of an N-terminal calponin homology (CH) domain and a C-terminal calponin-like (CLIK) domain. Mice with a knockout of the orthologous gene are viable and fertile but their vascular smooth muscle cells exhibit alterations in the distribution of the actin filament and changes in cytoskeletal organization. [provided by RefSeq, Aug 2017]

View all TAGLN variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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