rs4336470

This is a intron variant variant in the HACE1 gene.

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GWAS Catalog Trait Associations (1)

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

neuroblastoma

Diskin SJ et al. “Common variation at 6q16 within HACE1 and LIN28B influences susceptibility to neuroblastoma.” Nature Genetics 44(10):1126-30 (2012)

Allele C

OR 1.26

p 3.0e-11

N 6,303

Large GWAS

multi-ancestry

About HACE1

This gene encodes a HECT domain and ankyrin repeat-containing ubiquitin ligase. The encoded protein is involved in specific tagging of target proteins, leading to their subcellular localization or proteasomal degradation. The protein is a potential tumor suppressor and is involved in the pathophysiology of several tumors, including Wilm's tumor. [provided by RefSeq, Mar 2016]

View all HACE1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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