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rs121909131

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121909131(C;T)
Make rs121909131(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position16047917
GeneCLCNKA, CLCNKB
is asnp
is mentioned by
dbSNPrs121909131
ebirs121909131
HLIrs121909131
Exacrs121909131
Varsomers121909131
Maprs121909131
PheGenIrs121909131
hapmaprs121909131
1000 genomesrs121909131
hgdprs121909131
ensemblrs121909131
gopubmedrs121909131
geneviewrs121909131
scholarrs121909131
googlers121909131
pharmgkbrs121909131
gwascentralrs121909131
openSNPrs121909131
23andMers121909131
23andMe allrs121909131
SNP Nexus

SNPshotrs121909131
SNPdbers121909131
MSV3drs121909131
GWAS Ctlgrs121909131
Max Magnitude0
OMIM602023
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121909131(T;T)
Alt rs121909131(T;T)
Reference rs121909131(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.16374412C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008029.2,