Have questions? Visit https://www.reddit.com/r/SNPedia

rs121909133

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121909133(C;T)
Make rs121909133(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position16051724
GeneCLCNKB
is asnp
is mentioned by
dbSNPrs121909133
dbSNP (classic)rs121909133
ClinGenrs121909133
ebirs121909133
HLIrs121909133
Exacrs121909133
Gnomadrs121909133
Varsomers121909133
LitVarrs121909133
Maprs121909133
PheGenIrs121909133
Biobankrs121909133
1000 genomesrs121909133
hgdprs121909133
ensemblrs121909133
geneviewrs121909133
scholarrs121909133
googlers121909133
pharmgkbrs121909133
gwascentralrs121909133
openSNPrs121909133
23andMers121909133
SNPshotrs121909133
SNPdbers121909133
MSV3drs121909133
GWAS Ctlgrs121909133
Max Magnitude0
OMIM602023
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121909133(A;A) rs121909133(T;T)
Alt rs121909133(A;A) rs121909133(T;T)
Reference Rs121909133(C;C)
Significance Pathogenic
Disease Bartter syndrome type 3 not provided
Variation info
Gene CLCNKB
CLNDBN Bartter syndrome type 3 not provided
Reversed 0
HGVS NC_000001.10:g.16378219C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000008031.3, RCV000054563.1,