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rs2015352

From SNPedia

Orientationplus
Stabilizedplus
Make rs2015352(G;G)
Make rs2015352(G;T)
Make rs2015352(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position16044572
GeneCLCNKB
is asnp
is mentioned by
dbSNPrs2015352
ebirs2015352
HLIrs2015352
Exacrs2015352
Varsomers2015352
Maprs2015352
PheGenIrs2015352
hapmaprs2015352
1000 genomesrs2015352
hgdprs2015352
ensemblrs2015352
gopubmedrs2015352
geneviewrs2015352
scholarrs2015352
googlers2015352
pharmgkbrs2015352
gwascentralrs2015352
openSNPrs2015352
23andMers2015352
23andMe allrs2015352
SNP Nexus

SNPshotrs2015352
SNPdbers2015352
MSV3drs2015352
GWAS Ctlgrs2015352
GMAF0.4036
Max Magnitude
? (G;G) (G;T) (T;T) 28


Venter snp
Source plos
Gene CLCNKB
allele T
frequency
sift AFFECT FUNCTION
HuRef 1103675030547
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.



GET Evidence
CLCNKB-R27L
aa_change Arg27Leu
aa_change_short R27L
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.522689
summary