rs383603

This variant is located in the TMC8 gene.

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GWAS Catalog Trait Associations (4)

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

erythrocyte count

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele G
OR 0.02
p 9.0e-13
N 581,830
Major Consortium StudyLarge GWAS
multi-ancestry

erythrocyte volume

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele C
OR 0.02
p 1.0e-12
N 408,112
Large GWAS
European

type 2 diabetes mellitus

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele G
OR 0.03
p 5.0e-12
N 432,648
Major Consortium StudyLarge GWAS
European

diabetes mellitus

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele G
OR 0.03
p 1.0e-11
N 431,305
Major Consortium StudyLarge GWAS
European
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ClinVar annotation

Benign★★★☆
2 submitters1 publication
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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