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rs121909137

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121909137(C;C)
Make rs121909137(C;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position16024773
GeneCLCNKA
is asnp
is mentioned by
dbSNPrs121909137
dbSNP (classic)rs121909137
ClinGenrs121909137
ebirs121909137
HLIrs121909137
Exacrs121909137
Gnomadrs121909137
Varsomers121909137
LitVarrs121909137
Maprs121909137
PheGenIrs121909137
Biobankrs121909137
1000 genomesrs121909137
hgdprs121909137
ensemblrs121909137
geneviewrs121909137
scholarrs121909137
googlers121909137
pharmgkbrs121909137
gwascentralrs121909137
openSNPrs121909137
23andMers121909137
SNPshotrs121909137
SNPdbers121909137
MSV3drs121909137
GWAS Ctlgrs121909137
Max Magnitude0
OMIM602024
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121909137(C;C)
Alt rs121909137(C;C)
Reference Rs121909137(G;G)
Significance Pathogenic
Disease Bartter syndrome
Variation info
Gene CLCNKA
CLNDBN Bartter syndrome, type 4b
Reversed 0
HGVS NC_000001.10:g.16351268G>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000008027.3,