rs57838764

This is a regulatory region variant variant in the RASSF1 gene.

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GWAS Catalog Trait Associations (1)

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

neurotic disorder

Cai N et al. “Minimal phenotyping yields genome-wide association signals of low specificity for major depression.” Nature Genetics 52(4):437-447 (2020)
Allele C
OR 0.01
p 3.0e-8
N 274,107
Large GWAS
European

About RASSF1

This gene encodes a protein similar to the RAS effector proteins. Loss or altered expression of this gene has been associated with the pathogenesis of a variety of cancers, which suggests the tumor suppressor function of this gene. The inactivation of this gene was found to be correlated with the hypermethylation of its CpG-island promoter region. The encoded protein was found to interact with DNA repair protein XPA. The protein was also shown to inhibit the accumulation of cyclin D1, and thus induce cell cycle arrest. Several alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, May 2011]

View all RASSF1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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