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rs34188929

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0
Make rs34188929(C;T)
Make rs34188929(T;T)
ReferenceGRCh37 37.1/131
Chromosome1
Position16354394
GeneCLCNKA
is asnp
is mentioned by
dbSNPrs34188929
ebirs34188929
HLIrs34188929
Exacrs34188929
Varsomers34188929
Maprs34188929
PheGenIrs34188929
hapmaprs34188929
1000 genomesrs34188929
hgdprs34188929
ensemblrs34188929
gopubmedrs34188929
geneviewrs34188929
scholarrs34188929
googlers34188929
pharmgkbrs34188929
gwascentralrs34188929
openSNPrs34188929
23andMers34188929
23andMe allrs34188929
SNP Nexus

SNPshotrs34188929
SNPdbers34188929
MSV3drs34188929
GWAS Ctlgrs34188929
Max Magnitude0
Venter snp
Source plos
Gene CLCNKB
allele T
frequency
sift TOLERATED
HuRef 1103675030580
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.