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rs11554421

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs11554421(A;A)
Make rs11554421(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position753986
GeneWNK1
is asnp
is mentioned by
dbSNPrs11554421
ebirs11554421
HLIrs11554421
Exacrs11554421
Varsomers11554421
Maprs11554421
PheGenIrs11554421
hapmaprs11554421
1000 genomesrs11554421
hgdprs11554421
ensemblrs11554421
gopubmedrs11554421
geneviewrs11554421
scholarrs11554421
googlers11554421
pharmgkbrs11554421
gwascentralrs11554421
openSNPrs11554421
23andMers11554421
23andMe allrs11554421
SNP Nexus

SNPshotrs11554421
SNPdbers11554421
MSV3drs11554421
GWAS Ctlgrs11554421
GMAF0.07071
Max Magnitude0
? (A;A) (A;G) (G;G) 28
Venter snp
Source plos
Gene WNK1
allele A
frequency
sift
HuRef 1103649345460
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.



ClinVar
Risk rs11554421(A;A)
Alt rs11554421(A;A)
Reference rs11554421(G;G)
Significance Non-pathogenic
Disease not specified
Variation info
Gene WNK1
CLNDBN not specified
Reversed 0
HGVS NC_000012.11:g.863152G>A
CLNSRC ClinVar GeneDx
CLNACC RCV000126341.1,