rs35978636

This variant is located in the BANK1 gene.

▶

GWAS Catalog Trait Associations (3)

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

C-C motif chemokine 13 level

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.13
p 2.0e-12
N 47,745
Large GWAS
European

mitochondrial DNA measurement

Gupta R et al. “Nuclear genetic control of mtDNA copy number and heteroplasmy in humans.” Nature 620(7975):839-848 (2023)
Allele G
OR 0.07
p 7.0e-9
N 163,372
Large GWAS
multi-ancestry
▶

ClinVar annotation

Likely Benign★★★☆
3 submitters1 publication

Systemic lupus erythematosus; not provided

View on ClinVar →

About BANK1

The protein encoded by this gene is a B-cell-specific scaffold protein that functions in B-cell receptor-induced calcium mobilization from intracellular stores. This protein can also promote Lyn-mediated tyrosine phosphorylation of inositol 1,4,5-trisphosphate receptors. Polymorphisms in this gene are associated with susceptibility to systemic lupus erythematosus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]

View all BANK1 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…