rs2737216
This variant is located in the TRPS1 gene.
▶GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
alcohol consumption quality, high density lipoprotein cholesterol measurement
de Vries PS et al. “Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions.” American Journal of Epidemiology 188(6):1033-1054 (2019)
Allele T
OR —
p 2.0e-13
N 71,394
Large GWAS
multi-ancestry
alcohol drinking, high density lipoprotein cholesterol measurement
de Vries PS et al. “Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions.” American Journal of Epidemiology 188(6):1033-1054 (2019)
Allele T
OR —
p 4.0e-12
N 127,326
Large GWAS
multi-ancestry
high density lipoprotein cholesterol measurement
de Vries PS et al. “Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions.” American Journal of Epidemiology 188(6):1033-1054 (2019)
Allele T
OR —
β 0.012
p 1.0e-12
N 71,394
Large GWAS
multi-ancestry
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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