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rs121909138

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121909138(C;T)
Make rs121909138(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position16027432
GeneCLCNKA
is asnp
is mentioned by
dbSNPrs121909138
dbSNP (classic)rs121909138
ClinGenrs121909138
ebirs121909138
HLIrs121909138
Exacrs121909138
Gnomadrs121909138
Varsomers121909138
LitVarrs121909138
Maprs121909138
PheGenIrs121909138
Biobankrs121909138
1000 genomesrs121909138
hgdprs121909138
ensemblrs121909138
geneviewrs121909138
scholarrs121909138
googlers121909138
pharmgkbrs121909138
gwascentralrs121909138
openSNPrs121909138
23andMers121909138
SNPshotrs121909138
SNPdbers121909138
MSV3drs121909138
GWAS Ctlgrs121909138
Max Magnitude0
OMIM602024
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121909138(T;T)
Alt rs121909138(T;T)
Reference Rs121909138(C;C)
Significance Pathogenic
Disease Bartter syndrome
Variation info
Gene CLCNKA
CLNDBN Bartter syndrome, type 4b
Reversed 0
HGVS NC_000001.10:g.16353927C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008028.2,