rs6506689

This is a regulatory region variant variant in the RAB31 gene.

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ClinVar annotation

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

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Integrative functional genomics identifies regulatory genetic variant modulating RAB31 expression and altering susceptibility to breast cancer
AssociationN=4,546Yi Zhang et al.(2018)· Molecular Carcinogenesis

A two-stage case-control study (2,164 cases, 2,382 controls) identified rs6506689 G>T as a breast cancer susceptibility variant with OR = 1.23 (95% CI = 1.07–1.40, P = 0.003) in combined analysis. Functional assays demonstrated that the T allele creates a FOXA1-binding site and upregulates RAB31 expression, implicating this regulatory variant in breast cancer development.

Traits studied:Breast cancerEstrogen receptor-negative breast cancerEstrogen receptor-positive breast cancerProgesterone receptor-negative breast cancerProgesterone receptor-positive breast cancer
PubMedDOIMetascience Observatory

About RAB31

Enables GDP binding activity; GTP binding activity; and GTPase activity. Involved in several processes, including Golgi to plasma membrane protein transport; cellular response to insulin stimulus; and receptor internalization. Located in early endosome; phagocytic vesicle; and trans-Golgi network membrane. Biomarker of severe acute respiratory syndrome. [provided by Alliance of Genome Resources, Jul 2025]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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