rs17716942

This is a regulatory region variant variant in the KCNH7 gene.

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GWAS Catalog Trait Associations (2)

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

psoriasis

Tsoi LC et al. “Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity.” Nature Genetics 44(12):1341-8 (2012)
Allele T
OR 1.27
p 3.0e-18
N 33,394
Large GWAS
European
Baurecht H et al. “Genome-wide comparative analysis of atopic dermatitis and psoriasis gives insight into opposing genetic mechanisms.” American Journal of Human Genetics 96(1):104-20 (2015)
Allele T
OR 1.31
p 3.0e-9
N 12,244
Large GWAS
European
Strange A et al. “A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1.” Nature Genetics 42(11):985-990 (2010)
Allele T
OR 1.29
p 1.0e-13
N 7,353
Large GWAS
European

psoriasis vulgaris

Stuart PE et al. “Genome-wide Association Analysis of Psoriatic Arthritis and Cutaneous Psoriasis Reveals Differences in Their Genetic Architecture.” American Journal of Human Genetics 97(6):816-36 (2015)
Allele T
OR 1.29
p 5.0e-13
N 8,941
Large GWAS
European

About KCNH7

Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily H. This member is a pore-forming (alpha) subunit. There are at least two alternatively spliced transcript variants derived from this gene and encoding distinct isoforms. [provided by RefSeq, Jul 2008]

View all KCNH7 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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