rs12449858
This variant is located in the TMC6 gene.
▶GWAS Catalog Trait Associations (7)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (7)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
level of signaling threshold-regulating transmembrane adapter 1 in blood serum
level of phosphoprotein associated with glycosphingolipid-enriched microdomains 1 in blood
erythrocyte count
erythrocyte volume
mean reticulocyte volume
reticulocyte amount
reticulocyte count
▶ClinVar annotation
not specified; Epidermodysplasia verruciformis; not provided
View on ClinVar →About TMC6
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 10 transmembrane domains and 2 leucine zipper motifs. [provided by RefSeq, Jul 2008]
View all TMC6 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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