rs7208422

This is a protein-altering variant in the TMC8 gene.

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GWAS Catalog Trait Associations (9)

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

CD6 measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.07
p 4.0e-61
N 47,745
Large GWAS
European

level of Src kinase-associated phosphoprotein 1 in blood

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.06
p 1.0e-32
N 47,745
Large GWAS
European

ezrin measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.05
p 2.0e-16
N 47,745
Large GWAS
European

t-cell surface glycoprotein CD5 measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.04
p 2.0e-16
N 47,745
Large GWAS
European

erythrocyte volume

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.01
p 4.0e-16
N 394,642
Large GWAS
European

sh2 domain-containing protein 1a measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.04
p 5.0e-13
N 47,745
Large GWAS
European

HbA1c measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele T
OR 0.02
p 2.0e-12
N 338,919
Major Consortium StudyLarge GWAS
multi-ancestry
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ClinVar annotation

Benign★★★☆
9 submitters3 publications

Epidermodysplasia verruciformis; Epidermodysplasia verruciformis, susceptibility to, 2; not specified

View on ClinVar →
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Research that mentions this SNP (1)

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Contribution of TMC6 and TMC8 (EVER1 and EVER2) variants to cervical cancer susceptibility
AssociationN=5,270Felipe A. Castro et al.(2012)· International Journal of Cancer

This candidate gene study evaluated 22 SNPs in the TMC6/8 (EVER1/2) genes in 2,989 Swedish cervical cancer cases (CIN III/ICC) and 2,281 controls. Two SNPs showed significant association with cervical cancer susceptibility: rs2290907 (OR=0.6, 95% CI: 0.3-0.9, p=0.02) in TNRC6C and rs16970849 (OR=0.8, 95% CI: 0.66-0.98, p=0.03) in TMC8, supporting the role of the TMC6/8 region in cervical cancer risk.

Traits studied:Cervical cancerCervical intraepithelial neoplasia grade IIIInvasive cervical carcinoma
PubMedDOIMetascience Observatory

About TMC8

Epidermodysplasia verruciformis (EV) is an autosomal recessive dermatosis characterized by abnormal susceptibility to human papillomaviruses (HPVs) and a high rate of progression to squamous cell carcinoma on sun-exposed skin. EV is caused by mutations in either of two adjacent genes located on chromosome 17q25.3. Both of these genes encode integral membrane proteins that localize to the endoplasmic reticulum and are predicted to form transmembrane channels. This gene encodes a transmembrane channel-like protein with 8 predicted transmembrane domains and 3 leucine zipper motifs. [provided by RefSeq, Jul 2008]

View all TMC8 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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