rs138331350

This is a downstream gene variant variant in the FANCB gene.

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GWAS Catalog Trait Associations (1)

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

high density lipoprotein cholesterol measurement

Hoffmann TJ et al. “A large electronic-health-record-based genome-wide study of serum lipids.” Nature Genetics 50(3):401-413 (2018)

Allele G

OR —

β 0.048

p 3.0e-11

N 94,674

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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