rs3168640

This variant is located in the WNK1 gene.

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ClinVar annotation

Benign★★★☆
12 submitters3 publications

not specified; Pseudohypoaldosteronism type 2C; Neuropathy, hereditary sensory and autonomic, type 2A; Neuropathy, hereditary sensory and autonomic, type 2A;Pseudohypoaldosteronism type 2C; not provided

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Research that mentions this SNP (1)

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Association of with‐no‐lysine kinase 1 and Serine/Threonine kinase 39 gene polymorphisms and haplotypes with essential hypertension in Tibetans
AssociationN=509Rufeng Shi et al.(2018)· Environmental and Molecular Mutagenesis

A case-control study in 204 hypertensive and 305 normotensive Tibetans identified WNK1 rs1468326 (allele A: 53.4% vs 42.9%, OR 1.60, 95% CI 1.02-2.62 for CA+AA genotypes) and STK39 rs6749447 (TT genotype protective: OR 0.49, 95% CI 0.19-0.95) as significantly associated with essential hypertension. The WNK1 haplotype AGACAGGAATCGT (H2) showed 1.57-fold increased hypertension risk (95% CI 1.02-2.41).

Traits studied:Blood pressure (systolic and diastolic)Essential hypertension
PubMedDOIMetascience Observatory

About WNK1

This gene encodes a member of the WNK subfamily of serine/threonine protein kinases. The encoded protein may be a key regulator of blood pressure by controlling the transport of sodium and chloride ions. Mutations in this gene have been associated with pseudohypoaldosteronism type II and hereditary sensory neuropathy type II. Alternatively spliced transcript variants encoding different isoforms have been described but the full-length nature of all of them has yet to be determined.[provided by RefSeq, May 2010]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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