rs12662670

This variant is located in the CCDC170 gene.

▶

GWAS Catalog Trait Associations (1)

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

breast carcinoma

Michailidou K et al. “Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer.” Nature Genetics 47(4):373-80 (2015)

Allele G

OR 1.17

p 7.0e-27

N 33,832

Large GWAS

European

▶

ClinVar annotation

Uncertain Significance

1 submitter

Estrogen resistance syndrome

View on ClinVar →

▶

Research that mentions this SNP (1)

▶

Genetic variants in microRNA and microRNA biogenesis pathway genes and breast cancer risk among women of African ancestry

AssociationN=9,670Frank Qian et al.(2016)· Human Genetics

This case-control study examined 822 genetic variants in primary miRNA sequences and 10,468 variants in 38 miRNA biogenesis pathway genes in relation to breast cancer risk among women of African ancestry. The study included 1,657 cases and 2,029 controls from the ROOT consortium with replication in 3,153 cases and 2,831 controls from the AABC consortium. Key findings identified SNPs associated with overall breast cancer risk and estrogen receptor (ER)-specific risk, including rs73991220 in mir-4725 (ER-negative; OR=1.27, p=0.002), rs146287903 in PAPD4 (ER-negative; OR=0.49, p=3.27×10⁻⁴), and rs72631820 in miR-339-3p (ER-positive; OR=1.36, p=0.004).

Traits studied:Breast cancerEstrogen receptor-negative breast cancerEstrogen receptor-positive breast cancer

PubMed DOI Metascience Observatory

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]