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rs121909134

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121909134(A;A)
Make rs121909134(A;C)
ReferenceGRCh38 38.1/141
Chromosome1
Position16050593
GeneCLCNKA, CLCNKB
is asnp
is mentioned by
dbSNPrs121909134
ebirs121909134
HLIrs121909134
Exacrs121909134
Varsomers121909134
Maprs121909134
PheGenIrs121909134
hapmaprs121909134
1000 genomesrs121909134
hgdprs121909134
ensemblrs121909134
gopubmedrs121909134
geneviewrs121909134
scholarrs121909134
googlers121909134
pharmgkbrs121909134
gwascentralrs121909134
openSNPrs121909134
23andMers121909134
23andMe allrs121909134
SNP Nexus

SNPshotrs121909134
SNPdbers121909134
MSV3drs121909134
GWAS Ctlgrs121909134
Max Magnitude0
OMIM602023
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121909134(A;A)
Alt rs121909134(A;A)
Reference rs121909134(C;C)
Significance Pathogenic
Disease Bartter syndrome type 3
Variation info
Gene CLCNKB
CLNDBN Bartter syndrome type 3
Reversed 0
HGVS NC_000001.10:g.16377088C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000008032.2,