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

rs121909385

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121909385(C;C)
Make rs121909385(C;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position56885307
GeneSLC12A3
is asnp
is mentioned by
dbSNPrs121909385
dbSNP (classic)rs121909385
ClinGenrs121909385
ebirs121909385
HLIrs121909385
Exacrs121909385
Gnomadrs121909385
Varsomers121909385
LitVarrs121909385
Maprs121909385
PheGenIrs121909385
Biobankrs121909385
1000 genomesrs121909385
hgdprs121909385
ensemblrs121909385
geneviewrs121909385
scholarrs121909385
googlers121909385
pharmgkbrs121909385
gwascentralrs121909385
openSNPrs121909385
23andMers121909385
SNPshotrs121909385
SNPdbers121909385
MSV3drs121909385
GWAS Ctlgrs121909385
Max Magnitude0
OMIM600968
Desc
Variant0012
Relatedalso
ClinVar
Risk rs121909385(C;C)
Alt rs121909385(C;C)
Reference Rs121909385(T;T)
Significance Pathogenic
Disease Familial hypokalemia-hypomagnesemia
Variation info
Gene SLC12A3
CLNDBN Familial hypokalemia-hypomagnesemia
Reversed 0
HGVS NC_000016.9:g.56919219T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000009126.2,