rs6001930

This is a regulatory region variant variant in the MRTFA gene.

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GWAS Catalog Trait Associations (2)

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

breast carcinoma

Michailidou K et al. “Association analysis identifies 65 new breast cancer risk loci.” Nature 551(7678):92-94 (2017)
Allele C
OR 1.12
p 4.0e-34
N 139,274
Large GWAS
multi-ancestry
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 C
OR 0.90
p 5.0e-34
N 277,932
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 C
OR 1.12
p 2.0e-20
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 C
OR 1.12
p 9.0e-19
N 22,627
Large GWAS
European

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 C
OR 1.14
p 2.0e-11
N 72,261
Large GWAS
European
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ClinVar annotation

Benign★☆☆☆
1 submitter1 publication
View on ClinVar →
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Research that mentions this SNP (1)

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Association between breast cancer genetic susceptibility variants and terminal duct lobular unit involution of the breast
AssociationN=872Clara Bodelon et al.(2017)· International Journal of Cancer

This pooled analysis of 872 women from two studies (Susan G. Komen Tissue Bank and BREAST Stamp Project) investigated the association between 62 established breast cancer susceptibility SNPs and terminal duct lobular unit (TDLU) involution, a breast cancer risk factor. Six SNPs (9.7%) showed nominal associations with at least one TDLU measure: rs616488 (PEX14), rs11242675 (FOXQ1), and rs6001930 (MKL1) with higher TDLU count (P=0.047, 0.045, 0.031); rs1353747 (PDE4D) and rs6472903 (8q21.11) with higher acini count per TDLU (P=0.007, 0.027); and rs1353747 (PDE4D) and rs204247 (RANBP9) with higher epithelial content (P=0.024, 0.017). Overall, breast cancer susceptibility SNPs showed limited enrichment for associations with TDLU involution.

Traits studied:Breast cancerMammographic densityTerminal duct lobular unit (TDLU) involution
PubMedDOIMetascience Observatory

About MRTFA

The protein encoded by this gene interacts with the transcription factor myocardin, a key regulator of smooth muscle cell differentiation. The encoded protein is predominantly nuclear and may help transduce signals from the cytoskeleton to the nucleus. This gene is involved in a specific translocation event that creates a fusion of this gene and the RNA-binding motif protein-15 gene. This translocation has been associated with acute megakaryocytic leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

View all MRTFA variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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