rs6929137
This is a variant in the CCDC170 gene that changes a valine to an isoleucine.
▶GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
bone tissue density
Styrkarsdottir U et al. “New sequence variants associated with bone mineral density.” Nature Genetics 41(1):15-7 (2009)
Allele A
OR 0.10
p 2.0e-10
N 6,865
Large GWAS
European
breast cancer
Harris BHL et al. “New role of fat-free mass in cancer risk linked with genetic predisposition.” Scientific Reports 14(1):7270 (2024)
Allele A
OR 0.10
p 3.0e-10
N 175,905
Large GWAS
European
▶ClinVar annotation
Pathogenic★☆☆☆
4 submitters2 publicationsCCDC170-related condition; Estrogen resistance syndrome; not specified
View on ClinVar →About CCDC170
The function of this gene and its encoded protein is not known. Several genome-wide association studies have implicated the region around this gene to be involved in breast cancer and bone mineral density, but no link to this specific gene has been found. [provided by RefSeq, May 2010]
View all CCDC170 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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