rs1158970
This is a intron variant variant in the KCNIP4 gene.
▶Research that mentions this SNP (1)
▶Informed Genome‐Wide Association Analysis With Family History As a Secondary Phenotype Identifies Novel Loci of Lung CancerAssociationN=23,669Julia G. Poirier et al.(2015)· Genetic Epidemiology
A two-stage GWAS with meta-analysis of 11,463 lung cancer cases and 12,206 controls identified 30 validated genetic variants (25 loci) associated with lung cancer susceptibility, with emphasis on variants associated with family history. Top findings include rs12415204 in FFAR4 (chr10q23.33; OR=1.09, 95% CI 1.04-1.14, P=1.63×10⁻⁴) and rs1158970 in KCNIP4 (chr4p15.2; OR=0.89, 95% CI 0.85-0.94, P=9.64×10⁻⁶). Four replicated variants function as eQTLs in lung tissue.
About KCNIP4
This gene encodes a member of the family of voltage-gated potassium (Kv) channel-interacting proteins (KCNIPs), which belong to the recoverin branch of the EF-hand superfamily. Members of the KCNIP family are small calcium binding proteins. They all have EF-hand-like domains, and differ from each other in the N-terminus. They are integral subunit components of native Kv4 channel complexes. They may regulate A-type currents, and hence neuronal excitability, in response to changes in intracellular calcium. This protein member also interacts with presenilin. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
View all KCNIP4 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…