rs72725608
This variant is located in the TTLL5 gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
carpal tunnel syndrome
Skuladottir AT et al. “A genome-wide meta-analysis identifies 50 genetic loci associated with carpal tunnel syndrome.” Nature Communications 13(1):1598 (2022)
Allele C
OR 1.13
p 4.0e-12
N 1,239,680
Meta-analysisLarge GWAS
European
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele C
OR 0.16
p 1.0e-8
N 658,927
Large GWAS
multi-ancestry
Wiberg A et al. “A genome-wide association analysis identifies 16 novel susceptibility loci for carpal tunnel syndrome.” Nature Communications 10(1):1030 (2019)
Allele C
OR 1.20
p 1.0e-8
N 401,656
Large GWAS
European
▶ClinVar annotation
Benign★★★☆
3 submitters2 publicationsAbout TTLL5
This gene encodes a member of the tubulin tyrosine ligase like protein family. This protein interacts with two glucocorticoid receptor coactivators, transcriptional intermediary factor 2 and steroid receptor coactivator 1. This protein may function as a coregulator of glucocorticoid receptor mediated gene induction and repression. This protein may also function as an alpha tubulin polyglutamylase.[provided by RefSeq, Feb 2010]
View all TTLL5 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…