rs1012729

plus

Geno	Mag	Summary
(A;A)		normal
(A;G)		altered pediatric blood pressure
(G;G)	0	altered pediatric blood pressure

Reference

GRCh38 38.1/141

Chromosome

12

Position

878316

Gene

WNK1

is a	snp
is	mentioned by
dbSNP	rs1012729
dbSNP (classic)	rs1012729
ClinGen	rs1012729
ebi	rs1012729
HLI	rs1012729
Exac	rs1012729
Gnomad	rs1012729
Varsome	rs1012729
LitVar	rs1012729
Map	rs1012729
PheGenI	rs1012729
Biobank	rs1012729
1000 genomes	rs1012729
hgdp	rs1012729
ensembl	rs1012729
geneview	rs1012729
scholar	rs1012729
google	rs1012729
pharmgkb	rs1012729
gwascentral	rs1012729
openSNP	rs1012729
23andMe	rs1012729
SNPshot	rs1012729
SNPdbe	rs1012729
MSV3d	rs1012729
GWAS Ctlg	rs1012729

GMAF

0.2865

Max Magnitude

0

?

(A;A) (A;G) (G;G)

28

rs1012729 is a SNP in the WNK lysine deficient protein kinase 1 WNK1 gene.

In the Avon Longitudinal Study of Parent and Children Study (5326 subjects measured for systolic blood pressure at 11 years of age), rs1012729(G) carriers were associated with a gender-adjusted change in a diastolic blood pressure gradient of -0.11 mm Hg/y (CI: -0.20 to -0.03 mm Hg/y; p=0.0054). This variant also showed association with systolic blood pressure. [PMID 18809789]

ClinVar
Risk	Rs1012729(A;A) rs1012729(C;C) rs1012729(T;T)
Alt	Rs1012729(A;A) rs1012729(C;C) rs1012729(T;T)
Reference	Rs1012729(G;G)
Significance	Non-pathogenic
Disease	not specified Hereditary sensory and autonomic neuropathy type II Pseudohypoaldosteronism
Variation	info
Gene	WNK1
CLNDBN	not specified Hereditary sensory and autonomic neuropathy type II Pseudohypoaldosteronism, type 2
Reversed	0
HGVS	NC_000012.11:g.987482G>A
CLNSRC
CLNACC	RCV000249177.1, RCV000265691.1, RCV000358053.1,