rs2293889

This is a regulatory region variant variant in the TRPS1 gene.

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GWAS Catalog Trait Associations (8)

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

C-type lectin domain family 4 member K amount

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 1.0e-51
N 47,745
Large GWAS
European

triglycerides in large HDL 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 3.0e-45
N 450,015
Large GWAS
multi-ancestry

cholesterol to total lipids in very large HDL percentage

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 0.02
p 2.0e-37
N 450,015
Large GWAS
multi-ancestry

phospholipids:total lipids ratio

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 0.02
p 2.0e-35
N 450,015
Large GWAS
multi-ancestry

high density lipoprotein cholesterol measurement

Spracklen CN et al. “Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels.” Human Molecular Genetics 26(9):1770-1784 (2017)
Allele T
OR 0.03
p 5.0e-19
N 222,097
Large GWAS
multi-ancestry
Teslovich TM et al. “Biological, clinical and population relevance of 95 loci for blood lipids.” Nature 466(7307):707-713 (2010)
Allele T
OR 0.44
p 6.0e-11
N 99,900
Large GWAS
European
Hoffmann TJ et al. “A large electronic-health-record-based genome-wide study of serum lipids.” Nature Genetics 50(3):401-413 (2018)
Allele T
OR —
β 0.025
p 2.0e-11
N 94,674
Large GWAS
multi-ancestry
Willer CJ et al. “Discovery and refinement of loci associated with lipid levels.” Nature Genetics 45(11):1274-1283 (2013)
Allele T
OR —
β 0.031
p 4.0e-17
N 94,595
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 G
OR 0.01
p 1.0e-13
N 1,122,049
Large GWAS
European

level of T-cell surface glycoprotein CD1c in blood serum

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 1.0e-11
N 47,745
Large GWAS
European
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ClinVar annotation

Benign★★★☆
6 submitters1 publication

not specified; not provided; Trichorhinophalangeal dysplasia type I; Trichorhinophalangeal syndrome, type III

View on ClinVar →

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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