rs730153

This variant is located in the RCC2 gene.

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GWAS Catalog Trait Associations (4)

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

basal cell carcinoma

Seviiri M et al. “A multi-phenotype analysis reveals 19 susceptibility loci for basal cell carcinoma and 15 for squamous cell carcinoma.” Nature Communications 13(1):7650 (2022)
Allele A
OR —
p 2.0e-195
N 307,684
Large GWAS
European
Adolphe C et al. “Genetic and functional interaction network analysis reveals global enrichment of regulatory T cell genes influencing basal cell carcinoma susceptibility.” Genome Medicine 13(1):19 (2021)
Allele A
OR 0.18
p 9.0e-61
N 392,871
Large GWAS
European

keratinocyte carcinoma

Liyanage UE et al. “Combined analysis of keratinocyte cancers identifies novel genome-wide loci.” Human Molecular Genetics 28(18):3148-3160 (2019)
Allele A
OR 1.15
p 2.0e-57
N 358,840
Large GWAS
European

skin neoplasm

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele G
OR 0.04
p 3.0e-11
N 398,106
Major Consortium StudyLarge GWAS
European

skin cancer

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele G
OR 0.06
p 3.0e-14
N 400,487
Major Consortium StudyLarge GWAS
multi-ancestry

About RCC2

The protein encoded by this gene is a guanine exchange factor that is active on RalA, a small GTPase. The encoded protein and RalA are both essential for proper kinetochore-microtubule function in early mitosis. This protein has been shown to be a biomarker for colorectal cancer. [provided by RefSeq, Oct 2016]

View all RCC2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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