rs772920
This is a regulatory region variant variant in the RAB5B gene.
▶GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
forced expiratory volume
Wyss AB et al. “Multiethnic meta-analysis identifies ancestry-specific and cross-ancestry loci for pulmonary function.” Nature Communications 9(1):2976 (2018)
Allele C
OR 13.86
p 2.0e-8
N 90,715
Meta-analysisLarge GWAS
multi-ancestry
basal cell carcinoma
Choquet H et al. “Multi-ancestry genome-wide meta-analysis identifies novel basal cell carcinoma loci and shared genetic effects with squamous cell carcinoma.” Communications Biology 7(1):33 (2024)
Allele G
OR 0.95
p 3.0e-10
N 802,297
Meta-analysisLarge GWAS
European
About RAB5B
Enables GDP binding activity; GTP-dependent protein binding activity; and GTPase activity. Involved in antigen processing and presentation and plasma membrane to endosome transport. Located in endosome and extracellular exosome. [provided by Alliance of Genome Resources, Jul 2025]
View all RAB5B variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…