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rs267607050

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267607050(C;T)
Make rs267607050(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position56868355
GeneSLC12A3
is asnp
is mentioned by
dbSNPrs267607050
dbSNP (classic)rs267607050
ClinGenrs267607050
ebirs267607050
HLIrs267607050
Exacrs267607050
Gnomadrs267607050
Varsomers267607050
LitVarrs267607050
Maprs267607050
PheGenIrs267607050
Biobankrs267607050
1000 genomesrs267607050
hgdprs267607050
ensemblrs267607050
geneviewrs267607050
scholarrs267607050
googlers267607050
pharmgkbrs267607050
gwascentralrs267607050
openSNPrs267607050
23andMers267607050
SNPshotrs267607050
SNPdbers267607050
MSV3drs267607050
GWAS Ctlgrs267607050
Max Magnitude0
ClinVar
Risk rs267607050(T;T)
Alt rs267607050(T;T)
Reference Rs267607050(C;C)
Significance Pathogenic
Disease Familial hypokalemia-hypomagnesemia
Variation info
Gene SLC12A3
CLNDBN Familial hypokalemia-hypomagnesemia
Reversed 0
HGVS NC_000016.9:g.56902267C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000009127.3,