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rs140012781

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs140012781(C;T)
Make rs140012781(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome16
Position56886366
GeneSLC12A3
is asnp
is mentioned by
dbSNPrs140012781
dbSNP (classic)rs140012781
ClinGenrs140012781
ebirs140012781
HLIrs140012781
Exacrs140012781
Gnomadrs140012781
Varsomers140012781
LitVarrs140012781
Maprs140012781
PheGenIrs140012781
Biobankrs140012781
1000 genomesrs140012781
hgdprs140012781
ensemblrs140012781
geneviewrs140012781
scholarrs140012781
googlers140012781
pharmgkbrs140012781
gwascentralrs140012781
openSNPrs140012781
23andMers140012781
SNPshotrs140012781
SNPdbers140012781
MSV3drs140012781
GWAS Ctlgrs140012781
Max Magnitude0
ClinVar
Risk rs140012781(T;T)
Alt rs140012781(T;T)
Reference Rs140012781(C;C)
Significance Pathogenic
Disease Familial hypokalemia-hypomagnesemia not specified
Variation info
Gene SLC12A3
CLNDBN Familial hypokalemia-hypomagnesemia not specified
Reversed 0
HGVS NC_000016.9:g.56920278C>T
CLNSRC
CLNACC RCV000477915.1, RCV000478620.1,