rs6979

This is a variant in the ACD gene that changes a valine to an alanine.

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GWAS Catalog Trait Associations (2)

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

hemoglobin measurement

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 0.015

p 1.0e-11

N 684,122

Large GWAS

European

ovarian serous carcinoma

Barnes DR et al. “Genome-wide association study of 398,238 women unveils seven loci associated with high-grade serous ovarian cancer.” Npj Genomic Medicine 10(1):73 (2025)

Allele G

OR 1.07

p 2.0e-8

N 398,238

Large GWAS

European

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ClinVar annotation

Benign★★★☆

8 submitters2 publications

Dyskeratosis congenita, autosomal dominant 6 (DKCA6); not specified

View on ClinVar →

About ACD

This gene encodes a protein that is involved in telomere function. This protein is one of six core proteins in the telosome/shelterin telomeric complex, which functions to maintain telomere length and to protect telomere ends. Through its interaction with other components, this protein plays a key role in the assembly and stabilization of this complex, and it mediates the access of telomerase to the telomere. Multiple transcript variants encoding different isoforms have been found for this gene. This gene, which is also referred to as TPP1, is distinct from the unrelated TPP1 gene on chromosome 11, which encodes tripeptidyl-peptidase I. [provided by RefSeq, Jul 2008]