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rs121909382

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121909382(C;T)
Make rs121909382(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position56884142
GeneSLC12A3
is asnp
is mentioned by
dbSNPrs121909382
dbSNP (classic)rs121909382
ClinGenrs121909382
ebirs121909382
HLIrs121909382
Exacrs121909382
Gnomadrs121909382
Varsomers121909382
LitVarrs121909382
Maprs121909382
PheGenIrs121909382
Biobankrs121909382
1000 genomesrs121909382
hgdprs121909382
ensemblrs121909382
geneviewrs121909382
scholarrs121909382
googlers121909382
pharmgkbrs121909382
gwascentralrs121909382
openSNPrs121909382
23andMers121909382
SNPshotrs121909382
SNPdbers121909382
MSV3drs121909382
GWAS Ctlgrs121909382
Max Magnitude0
OMIM600968
Desc
Variant0008
Relatedalso
ClinVar
Risk rs121909382(A;A) rs121909382(T;T)
Alt rs121909382(A;A) rs121909382(T;T)
Reference Rs121909382(C;C)
Significance Pathogenic
Disease Familial hypokalemia-hypomagnesemia
Variation info
Gene SLC12A3
CLNDBN Familial hypokalemia-hypomagnesemia
Reversed 0
HGVS NC_000016.9:g.56918054C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000009122.2,