rs16857609

This is a intron variant variant in the DIRC3 gene.

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GWAS Catalog Trait Associations (4)

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

thyroid cancer

Zhou W et al. “Global Biobank Meta-analysis Initiative: Powering genetic discovery across human disease.” Cell Genomics 2(10):100192 (2022)
Allele T
OR 0.32
p 1.0e-57
N 1,620,354
Meta-analysisLarge GWAS
multi-ancestry

breast carcinoma

Shu X et al. “Identification of novel breast cancer susceptibility loci in meta-analyses conducted among Asian and European descendants.” Nature Communications 11(1):1217 (2020)
Allele T
OR 1.07
p 2.0e-31
N 277,932
Large GWAS
multi-ancestry
Michailidou K et al. “Association analysis identifies 65 new breast cancer risk loci.” Nature 551(7678):92-94 (2017)
Allele T
OR 1.06
p 2.0e-25
N 139,274
Large GWAS
multi-ancestry
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 T
OR 1.08
p 1.0e-17
N 33,832
Large GWAS
European
Michailidou K et al. “Large-scale genotyping identifies 41 new loci associated with breast cancer risk.” Nature Genetics 45(4):353-61, 361e1-2 (2013)
Allele T
OR 1.08
p 1.0e-15
N 22,627
Large GWAS
European

thyroid carcinoma

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele T
OR 0.30
p 2.0e-13
N 670,697
Large GWAS
multi-ancestry

estrogen-receptor negative breast cancer

Milne RL et al. “Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer.” Nature Genetics 49(12):1767-1778 (2017)
Allele T
OR 1.07
p 2.0e-8
N 72,261
Large GWAS
European
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Research that mentions this SNP (1)

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Investigation of gene‐environment interactions between 47 newly identified breast cancer susceptibility loci and environmental risk factors
AssociationN=56,752Rudolph A. et al.(2015)· International Journal of Cancer

This study investigated gene-environment interactions between 47 newly identified breast cancer susceptibility loci and 13 environmental risk factors using data from 22 BCAC studies (26,633 cases, 30,119 controls). Six G×E interactions with p<1.1×10⁻³ were identified, including rs6828523 (ADAM29) with adult height (ER-negative OR_int=1.14, p=1.9×10⁻⁴), rs4808801 (ELL) with pregnancies (OR_int=0.96, p=6.1×10⁻⁴), and rs11242675 (FOXQ1) with smoking (OR_int=1.13, p=3.4×10⁻⁴). Overall, recently identified breast cancer susceptibility loci were not strongly modified by established environmental risk factors.

Traits studied:Breast cancerBreast cancer (estrogen receptor negative)Breast cancer (estrogen receptor positive)
PubMedDOIMetascience Observatory

This variant is in our database but has no known associations or PRS memberships yet.

Gene information from NCBI Gene. Variant classifications from ClinVar.

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