rs3760982

This is a regulatory region variant variant in the KCNN4 gene.

▶

GWAS Catalog Trait Associations (2)

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

breast carcinoma

Michailidou K et al. “Association analysis identifies 65 new breast cancer risk loci.” Nature 551(7678):92-94 (2017)
Allele A
OR 1.05
p 1.0e-16
N 139,274
Large GWAS
multi-ancestry
Shu X et al. “Identification of novel breast cancer susceptibility loci in meta-analyses conducted among Asian and European descendants.” Nature Communications 11(1):1217 (2020)
Allele A
OR 1.05
p 2.0e-14
N 277,932
Large GWAS
multi-ancestry
Michailidou K et al. “Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer.” Nature Genetics 47(4):373-80 (2015)
Allele A
OR 1.05
p 8.0e-9
N 33,832
Large GWAS
European
Michailidou K et al. “Large-scale genotyping identifies 41 new loci associated with breast cancer risk.” Nature Genetics 45(4):353-61, 361e1-2 (2013)
Allele A
OR 1.06
p 2.0e-10
N 22,627
Large GWAS
European

estrogen-receptor negative breast cancer

Milne RL et al. “Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer.” Nature Genetics 49(12):1767-1778 (2017)
Allele A
OR 1.08
p 5.0e-8
N 72,261
Large GWAS
European

About KCNN4

The protein encoded by this gene is part of a potentially heterotetrameric voltage-independent potassium channel that is activated by intracellular calcium. Activation is followed by membrane hyperpolarization, which promotes calcium influx. The encoded protein may be part of the predominant calcium-activated potassium channel in T-lymphocytes. This gene is similar to other KCNN family potassium channel genes, but it differs enough to possibly be considered as part of a new subfamily. [provided by RefSeq, Jul 2008]

View all KCNN4 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…