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rs956868

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0
Make rs956868(A;A)
Make rs956868(A;C)
ReferenceGRCh38 38.1/141
Chromosome12
Position881746
GeneWNK1
is asnp
is mentioned by
dbSNPrs956868
ebirs956868
HLIrs956868
Exacrs956868
Varsomers956868
Maprs956868
PheGenIrs956868
hapmaprs956868
1000 genomesrs956868
hgdprs956868
ensemblrs956868
gopubmedrs956868
geneviewrs956868
scholarrs956868
googlers956868
pharmgkbrs956868
gwascentralrs956868
openSNPrs956868
23andMers956868
23andMe allrs956868
SNP Nexus

SNPshotrs956868
SNPdbers956868
MSV3drs956868
GWAS Ctlgrs956868
GMAF0.1529
Max Magnitude0
? (A;A) (A;C) (C;C) 28
Venter snp
Source plos
Gene WNK1
allele C
frequency 0.108
sift TOLERATED
HuRef 1103649345714
Disease Association Defects in WNK1 are a cause of pseudohypoaldosteronism type II (PHAII) (MIM:145260). PHAII is an autosomal dominant disease characterized by severe hypertension, hyperkalemia, and sensitivity to thiazide diuretics which may result from a chloride shunt in the renal distal nephron.



[PMID 19347040OA-icon.png] Polymorphisms in the WNK1 gene are associated with blood pressure variation and urinary potassium excretion.


[PMID 19584173OA-icon.png] Kininogen gene (KNG) variation has a consistent effect on aldosterone response to antihypertensive drug therapy: the GERA study.


GET Evidence
WNK1-T809P
aa_change Thr809Pro
aa_change_short T809P
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency
summary