Have questions? Visit https://www.reddit.com/r/SNPedia

rs7955371

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs7955371(C;G)
Make rs7955371(G;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position885321
GeneWNK1
is asnp
is mentioned by
dbSNPrs7955371
ebirs7955371
HLIrs7955371
Exacrs7955371
Varsomers7955371
Maprs7955371
PheGenIrs7955371
hapmaprs7955371
1000 genomesrs7955371
hgdprs7955371
ensemblrs7955371
gopubmedrs7955371
geneviewrs7955371
scholarrs7955371
googlers7955371
pharmgkbrs7955371
gwascentralrs7955371
openSNPrs7955371
23andMers7955371
23andMe allrs7955371
SNP Nexus

SNPshotrs7955371
SNPdbers7955371
MSV3drs7955371
GWAS Ctlgrs7955371
GMAF0.01056
Max Magnitude0
? (C;C) (C;G) (G;G) 28


Venter snp
Source plos
Gene WNK1
allele C
frequency 1
sift TOLERATED
HuRef 1103649345716
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.



GET Evidence
WNK1-C1766S
aa_change Cys1766Ser
aa_change_short C1766S
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency
summary