rs2748427

This variant is located in the TMC6 gene.

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GWAS Catalog Trait Associations (9)

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

erythrocyte volume

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 G
OR —
p 6.0e-91
N 696,882
Large GWAS
multi-ancestry

erythrocyte count

Jee YH et al. “Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures.” Nature Communications 16(1):4935 (2025)
Allele A
OR 0.04
p 1.0e-90
N 928,679
Large GWAS
multi-ancestry
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 A
OR 0.04
p 2.0e-16
N 172,952
Large GWAS
European
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele A
OR 0.04
p 4.0e-19
N 153,512
Large GWAS
East Asian

HbA1c measurement

Willems SM et al. “Large-scale exome array summary statistics resources for glycemic traits to aid effector gene prioritization.” Wellcome Open Research 8:483 (2023)
Allele G
OR 0.03
p 9.0e-70
N 144,060
Large GWAS
multi-ancestry
Chen J et al. “The trans-ancestral genomic architecture of glycemic traits.” Nature Genetics 53(6):840-860 (2021)
Allele G
OR 0.03
p 1.0e-48
N 146,806
Large GWAS
European
Hachiya T et al. “Genome-wide meta-analysis in Japanese populations identifies novel variants at the TMC6-TMC8 and SIX3-SIX2 loci associated with HbA(1c).” Scientific Reports 7(1):16147 (2017)
Allele G
OR 0.06
p 5.0e-20
N 7,704
Meta-analysis
East Asian
Sakashita T et al. “Comparison of the loci associated with HbA1c and blood glucose levels identified by a genome-wide association study in the Japanese population.” Diabetology International 14(2):188-198 (2023)
Allele G
OR 14.06
p 7.0e-45
N 4,911
Large GWAS
East Asian

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 G
OR —
p 1.0e-56
N 630,125
Large GWAS
multi-ancestry

bilirubin measurement

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-18
N 394,642
Large GWAS
European

hemoglobin measurement

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 G
OR —
p 4.0e-17
N 746,431
Large GWAS
multi-ancestry
Oskarsson GR et al. “Predicted loss and gain of function mutations in ACO1 are associated with erythropoiesis.” Communications Biology 3(1):189 (2020)
Allele G
OR —
β 0.019
p 3.0e-13
N 684,122
Large GWAS
European

hemoglobin A1 measurement

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele G
OR 0.04
p 8.0e-15
N 71,221
Large GWAS
East Asian

hematocrit

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 G
OR —
p 2.0e-12
N 737,823
Large GWAS
multi-ancestry

red blood cell density

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 G
OR 0.04
p 1.0e-60
N 545,203
Large GWAS
European
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ClinVar annotation

Benign★★★☆
7 submitters3 publications

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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