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rs12828016

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0
Make rs12828016(G;T)
Make rs12828016(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position889199
GeneWNK1
is asnp
is mentioned by
dbSNPrs12828016
ebirs12828016
HLIrs12828016
Exacrs12828016
Varsomers12828016
Maprs12828016
PheGenIrs12828016
hapmaprs12828016
1000 genomesrs12828016
hgdprs12828016
ensemblrs12828016
gopubmedrs12828016
geneviewrs12828016
scholarrs12828016
googlers12828016
pharmgkbrs12828016
gwascentralrs12828016
openSNPrs12828016
23andMers12828016
23andMe allrs12828016
SNP Nexus

SNPshotrs12828016
SNPdbers12828016
MSV3drs12828016
GWAS Ctlgrs12828016
GMAF0.3861
Max Magnitude0
? (G;G) (G;T) (T;T) 28
Venter snp
Source plos
Gene WNK1
allele T
frequency 0.392
sift
HuRef 1103649345724
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 23059770] Common Variation in With No-Lysine Kinase 1 (WNK1) and Blood Pressure Responses to Dietary Sodium or Potassium Interventions


GET Evidence
WNK1-M2068I
aa_change Met2068Ile
aa_change_short M2068I
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency
summary