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rs2275166

From SNPedia

Orientationplus
Stabilizedplus
Make rs2275166(A;A)
Make rs2275166(A;G)
Make rs2275166(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position16053748
GeneCLCNKA, CLCNKB
is asnp
is mentioned by
dbSNPrs2275166
ebirs2275166
HLIrs2275166
Exacrs2275166
Varsomers2275166
Maprs2275166
PheGenIrs2275166
hapmaprs2275166
1000 genomesrs2275166
hgdprs2275166
ensemblrs2275166
gopubmedrs2275166
geneviewrs2275166
scholarrs2275166
googlers2275166
pharmgkbrs2275166
gwascentralrs2275166
openSNPrs2275166
23andMers2275166
23andMe allrs2275166
SNP Nexus

SNPshotrs2275166
SNPdbers2275166
MSV3drs2275166
GWAS Ctlgrs2275166
GMAF0.2975
Max Magnitude
? (A;A) (A;G) (G;G) 28
Venter snp
Source plos
Gene CLCNKB
allele G
frequency 0.583
sift TOLERATED
HuRef 1103675030591
Disease Association Defects in CLCNKB are a cause of Bartter syndrome type 3 (BS type 3) (MIM:607364); also known as classic Bartter syndrome. It is an autosomal recessive form of often severe intravascular volume depletion due to renal salt-wasting associated with low blood pressure, hypokalemic alkalosis, hypercalciuria, and normal serum magnesium levels.



Neighborrs5253
Distance47


GET Evidence
CLCNKB-K409E
aa_change Lys409Glu
aa_change_short K409E
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency
summary



[PMID 25919862] Associations between CLCNKA_B tag SNPs with essential hypertension and interactions between genetic and environmental factors in an island population in China