rs11594179

This variant is located in the SUFU gene.

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GWAS Catalog Trait Associations (3)

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

platelet-derived growth factor complex BB dimer (human) level

Folkersen L et al. “Genomic and drug target evaluation of 90 cardiovascular proteins in 30,931 individuals.” Nature Metabolism 2(10):1135-1148 (2020)
Allele T
OR —
β 0.066
p 6.0e-11
N 21,758
Large GWAS
European

dickkopf‐related protein 1 measurement

Folkersen L et al. “Genomic and drug target evaluation of 90 cardiovascular proteins in 30,931 individuals.” Nature Metabolism 2(10):1135-1148 (2020)
Allele T
OR —
β 0.063
p 3.0e-10
N 21,758
Large GWAS
European
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ClinVar annotation

Benign★★★☆
3 submitters2 publications

Medulloblastoma; not provided; Gorlin syndrome;Medulloblastoma

View on ClinVar →
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Research that mentions this SNP (1)

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Single nucleotide polymorphisms within MicroRNAs, MicroRNA targets, and MicroRNA biogenesis genes and their impact on colorectal cancer survival
AssociationN=2,288Lila E. Mullany et al.(2017)· Genes, Chromosomes and Cancer

A candidate gene study of 1115 colorectal cancer cases and 1173 controls examined associations between 565 SNPs in microRNA genes, miRNA target genes, and miRNA biogenesis genes with colorectal cancer survival. Seven SNPs remained significantly associated with survival after multiple comparison adjustment: rs12140 (ADAMTS1, HRR=0.44, protective), and six SNPs associated with increased mortality risk including rs6598964 (LIN28A, HRR=2.26) which paradoxically decreased cancer risk (OR=0.77) but increased mortality. Five SNPs were also associated with altered mRNA expression levels.

Traits studied:Colorectal cancer riskColorectal cancer survivalmRNA expression
PubMedDOIMetascience Observatory

About SUFU

The Hedgehog signaling pathway plays an important role in early human development. The pathway is a signaling cascade that plays a role in pattern formation and cellular proliferation during development. This gene encodes a negative regulator of the hedgehog signaling pathway. Defects in this gene are a cause of medulloblastoma. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]

View all SUFU variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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