rs4876611

This is a intron variant variant in the TRPS1 gene.

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GWAS Catalog Trait Associations (69)

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

sialic acid-binding Ig-like lectin 8 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 0.13
p 3.0e-133
N 47,745
Large GWAS
European

glycoprotein measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele G
OR 0.03
p 2.0e-39
N 450,015
Large GWAS
multi-ancestry

amount of growth arrest-specific protein 6 (human) in blood

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 0.07
p 5.0e-35
N 47,745
Large GWAS
European

reticulocyte count

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 0.03
p 5.0e-35
N 394,642
Large GWAS
European

body fat percentage

Martin S et al. “Genetic Evidence for Different Adiposity Phenotypes and Their Opposing Influences on Ectopic Fat and Risk of Cardiometabolic Disease.” Diabetes 70(8):1843-1856 (2021)
Allele G
OR —
β 0.018
p 7.0e-28
N 442,278
Large GWAS
European
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 2.0e-23
N 394,642
Large GWAS
European

macrophage mannose receptor 1 level

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 0.06
p 2.0e-26
N 47,745
Large GWAS
European

fat pad mass

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 6.0e-25
N 394,642
Large GWAS
European
Harris BHL et al. “New role of fat-free mass in cancer risk linked with genetic predisposition.” Scientific Reports 14(1):7270 (2024)
Allele G
OR 0.02
p 8.0e-17
N 337,196
Large GWAS
European

body mass index

Hawkes G et al. “Genetic evidence that high BMI in childhood has a protective effect on intermediate diabetes traits, including measures of insulin sensitivity and secretion, after accounting for BMI in adulthood.” Diabetologia 66(8):1472-1480 (2023)
Allele A
OR 0.02
p 5.0e-21
N 441,761
Large GWAS
European
Koskeridis F et al. “Pleiotropic genetic architecture and novel loci for C-reactive protein levels.” Nature Communications 13(1):6939 (2022)
Allele A
OR 0.02
p 7.0e-21
N 694,649
Large GWAS
European

About TRPS1

This gene encodes a transcription factor that represses GATA-regulated genes and binds to a dynein light chain protein. Binding of the encoded protein to the dynein light chain protein affects binding to GATA consensus sequences and suppresses its transcriptional activity. Defects in this gene are a cause of tricho-rhino-phalangeal syndrome (TRPS) types I-III. [provided by RefSeq, Jul 2008]

View all TRPS1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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