rs196064

This is a regulatory region variant variant in the KCNJ4 gene.

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GWAS Catalog Trait Associations (1)

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

TPE interval measurement

Ramírez J et al. “Common Genetic Variants Modulate the Electrocardiographic Tpeak-to-Tend Interval.” American Journal of Human Genetics 106(6):764-778 (2020)
Allele C
OR 0.05
p 1.0e-20
N 71,338
Large GWAS
European

About KCNJ4

Several different potassium channels are known to be involved with electrical signaling in the nervous system. One class is activated by depolarization whereas a second class is not. The latter are referred to as inwardly rectifying K+ channels, and they have a greater tendency to allow potassium to flow into the cell rather than out of it. This asymmetry in potassium ion conductance plays a key role in the excitability of muscle cells and neurons. The protein encoded by this gene is an integral membrane protein and member of the inward rectifier potassium channel family. The encoded protein has a small unitary conductance compared to other members of this protein family. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

View all KCNJ4 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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