rs2748424

This is a regulatory region variant variant in the TMC6 gene.

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GWAS Catalog Trait Associations (6)

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

HbA1c measurement

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 C
OR 0.06
p 4.0e-55
N 491,836
Major Consortium StudyLarge GWAS
multi-ancestry
Chen J et al. “The trans-ancestral genomic architecture of glycemic traits.” Nature Genetics 53(6):840-860 (2021)
Allele C
OR —
β 0.043
p 3.0e-14
N 15,248
Large GWAS
Hispanic or Latin American
Moon JY et al. “A Genome-Wide Association Study Identifies Blood Disorder-Related Variants Influencing Hemoglobin A(1c) With Implications for Glycemic Status in U.S. Hispanics/Latinos.” Diabetes Care 42(9):1784-1791 (2019)
Allele C
OR 0.05
p 1.0e-16
N 9,636
Large GWAS
Hispanic or Latin American

reticulocyte count

Astle WJ et al. “The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.” Cell 167(5):1415-1429.e19 (2016)
Allele G
OR 0.04
p 9.0e-22
N 170,763
Large GWAS
European

mean corpuscular hemoglobin concentration

Chen MH et al. “Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.” Cell 182(5):1198-1213.e14 (2020)
Allele C
OR 0.05
p 2.0e-14
N 119,629
Large GWAS
East Asian

bilirubin 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 G
OR 0.02
p 6.0e-10
N 302,607
Major Consortium StudyLarge GWAS
multi-ancestry

Red cell distribution width

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 C
OR 0.07
p 3.0e-83
N 380,796
Major Consortium StudyLarge GWAS
European

reticulocyte amount

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele G
OR 0.03
p 4.0e-21
N 408,112
Large GWAS
European
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.02
p 3.0e-22
N 394,642
Large GWAS
European

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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