rs139120857
This is a upstream gene variant variant in the FANCB gene.
▶GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
lymphocyte percentage of leukocytes
Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele A
OR 0.03
p 2.0e-12
N 408,112
Large GWAS
European
neutrophil percentage of leukocytes
Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele A
OR 0.02
p 2.0e-10
N 408,112
Large GWAS
European
high density lipoprotein cholesterol measurement
Kanoni S et al. “Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis.” Genome Biology 23(1):268 (2022)
Allele A
OR 0.04
p 2.0e-19
N 562,410
Meta-analysisLarge GWAS
multi-ancestry
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele A
OR 0.05
p 1.0e-43
N 390,103
Large GWAS
multi-ancestry
About FANCB
This gene encodes a member of the Fanconi anemia complementation group B. This protein is assembled into a nucleoprotein complex that is involved in the repair of DNA lesions. Mutations in this gene can cause chromosome instability and VACTERL syndrome with hydrocephalus. [provided by RefSeq, Apr 2016]
View all FANCB variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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