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rs5253

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs5253(C;T)
Make rs5253(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position16053701
GeneCLCNKA, CLCNKB
is asnp
is mentioned by
dbSNPrs5253
ebirs5253
HLIrs5253
Exacrs5253
Varsomers5253
Maprs5253
PheGenIrs5253
hapmaprs5253
1000 genomesrs5253
hgdprs5253
ensemblrs5253
gopubmedrs5253
geneviewrs5253
scholarrs5253
googlers5253
pharmgkbrs5253
gwascentralrs5253
openSNPrs5253
23andMers5253
23andMe allrs5253
SNP Nexus

SNPshotrs5253
SNPdbers5253
MSV3drs5253
GWAS Ctlgrs5253
GMAF0.1657
Max Magnitude0
? (C;C) (C;T) (T;T) 28


Venter snp
Source plos
Gene CLCNKB
allele C
frequency 0.992
sift TOLERATED
HuRef 1103675030590
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.



Neighborrs2275166
Distance47


GET Evidence
CLCNKB-M393T
aa_change Met393Thr
aa_change_short M393T
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