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rs121909383

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121909383(C;T)
Make rs121909383(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position56872737
GeneSLC12A3
is asnp
is mentioned by
dbSNPrs121909383
dbSNP (classic)rs121909383
ClinGenrs121909383
ebirs121909383
HLIrs121909383
Exacrs121909383
Gnomadrs121909383
Varsomers121909383
LitVarrs121909383
Maprs121909383
PheGenIrs121909383
Biobankrs121909383
1000 genomesrs121909383
hgdprs121909383
ensemblrs121909383
geneviewrs121909383
scholarrs121909383
googlers121909383
pharmgkbrs121909383
gwascentralrs121909383
openSNPrs121909383
23andMers121909383
SNPshotrs121909383
SNPdbers121909383
MSV3drs121909383
GWAS Ctlgrs121909383
Max Magnitude0
OMIM600968
Desc
Variant0009
Relatedalso
ClinVar
Risk rs121909383(T;T)
Alt rs121909383(T;T)
Reference Rs121909383(C;C)
Significance Pathogenic
Disease Familial hypokalemia-hypomagnesemia
Variation info
Gene SLC12A3
CLNDBN Familial hypokalemia-hypomagnesemia
Reversed 0
HGVS NC_000016.9:g.56906649C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000009123.2,