rs2153271
This is a intron variant variant in the BNC2 gene.
▶GWAS Catalog Trait Associations (5)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (5)
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 T
OR —
p 4.0e-173
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 T
OR 0.08
p 2.0e-12
N 392,871
Large GWAS
European
squamous 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 T
OR —
p 3.0e-123
N 294,294
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 T
OR 1.11
p 5.0e-31
N 358,840
Large GWAS
European
freckles
Eriksson N et al. “Web-based, participant-driven studies yield novel genetic associations for common traits.” Plos Genetics 6(6):e1000993 (2010)
Allele C
OR 0.40
p 4.0e-10
N 9,126
Large GWAS
European
pulse pressure measurement
Surendran P et al. “Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals.” Nature Genetics 52(12):1314-1332 (2020)
Allele T
OR 0.11
p 4.0e-8
N 810,865
Meta-analysisLarge GWAS
European
About BNC2
This gene encodes a conserved zinc finger protein. The encoded protein functions in skin color saturation. Mutations in this gene are associated with facial pigmented spots. This gene is also associated with susceptibility to adolescent idiopathic scoliosis. [provided by RefSeq, Jul 2016]
View all BNC2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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