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rs121909380

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121909380(A;A)
Make rs121909380(A;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position56886402
GeneSLC12A3
is asnp
is mentioned by
dbSNPrs121909380
dbSNP (classic)rs121909380
ClinGenrs121909380
ebirs121909380
HLIrs121909380
Exacrs121909380
Gnomadrs121909380
Varsomers121909380
LitVarrs121909380
Maprs121909380
PheGenIrs121909380
Biobankrs121909380
1000 genomesrs121909380
hgdprs121909380
ensemblrs121909380
geneviewrs121909380
scholarrs121909380
googlers121909380
pharmgkbrs121909380
gwascentralrs121909380
openSNPrs121909380
23andMers121909380
SNPshotrs121909380
SNPdbers121909380
MSV3drs121909380
GWAS Ctlgrs121909380
Merged fromRs121909381
Max Magnitude0
OMIM600968
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121909380(A;A) rs121909380(T;T)
Alt rs121909380(A;A) rs121909380(T;T)
Reference Rs121909380(G;G)
Significance Pathogenic
Disease Familial hypokalemia-hypomagnesemia
Variation info
Gene SLC12A3
CLNDBN Familial hypokalemia-hypomagnesemia
Reversed 0
HGVS NC_000016.9:g.56920314G>A; NC_000016.9:g.56920314G>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000009119.3, RCV000009120.2,