rs7834300
This is a intron variant variant in the TRPS1 gene.
▶GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
basal cell carcinoma
Choquet H et al. “Multi-ancestry genome-wide meta-analysis identifies novel basal cell carcinoma loci and shared genetic effects with squamous cell carcinoma.” Communications Biology 7(1):33 (2024)
Allele C
OR 0.95
p 1.0e-13
N 812,765
Meta-analysisLarge GWAS
multi-ancestry
cutaneous squamous cell carcinoma
Sarin KY et al. “Genome-wide meta-analysis identifies eight new susceptibility loci for cutaneous squamous cell carcinoma.” Nature Communications 11(1):820 (2020)
Allele G
OR 0.07
p 2.0e-9
N 699,198
Meta-analysisLarge GWAS
European
Choquet H et al. “Multi-ancestry genome-wide meta-analysis identifies novel basal cell carcinoma loci and shared genetic effects with squamous cell carcinoma.” Communications Biology 7(1):33 (2024)
Allele G
OR 0.93
p 2.0e-8
N 778,893
Meta-analysisLarge 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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