rs138501510

This is a downstream gene variant variant in the GTF2H5 gene.

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GWAS Catalog Trait Associations (2)

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

normal

Jiang L et al. “A generalized linear mixed model association tool for biobank-scale data.” Nature Genetics 53(11):1616-1621 (2021)

Allele A

OR 0.29

p 3.0e-13

N 437,767

Large GWAS

European

hearing loss

Jiang L et al. “A generalized linear mixed model association tool for biobank-scale data.” Nature Genetics 53(11):1616-1621 (2021)

Allele A

OR 0.28

p 6.0e-13

N 437,767

Large GWAS

European

About GTF2H5

This gene encodes a subunit of transcription/repair factor TFIIH, which functions in gene transcription and DNA repair. This protein stimulates ERCC3/XPB ATPase activity to trigger DNA opening during DNA repair, and is implicated in regulating cellular levels of TFIIH. Mutations in this gene result in trichothiodystrophy, complementation group A. [provided by RefSeq, Mar 2009]

View all GTF2H5 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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