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rs28936387

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs28936387(C;C)
Make rs28936387(C;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position56879153
GeneSLC12A3
is asnp
is mentioned by
dbSNPrs28936387
ebirs28936387
HLIrs28936387
Exacrs28936387
Varsomers28936387
Maprs28936387
PheGenIrs28936387
hapmaprs28936387
1000 genomesrs28936387
hgdprs28936387
ensemblrs28936387
gopubmedrs28936387
geneviewrs28936387
scholarrs28936387
googlers28936387
pharmgkbrs28936387
gwascentralrs28936387
openSNPrs28936387
23andMers28936387
23andMe allrs28936387
SNP Nexus

SNPshotrs28936387
SNPdbers28936387
MSV3drs28936387
GWAS Ctlgrs28936387
Max Magnitude0
OMIM600968
DescGITELMAN SYNDROME
Variant0002
Relatedalso


ClinVar
Risk rs28936387(C;C)
Alt rs28936387(C;C)
Reference rs28936387(T;T)
Significance Pathogenic
Disease Familial hypokalemia-hypomagnesemia
Variation info
Gene SLC12A3
CLNDBN Familial hypokalemia-hypomagnesemia
Reversed 0
HGVS NC_000016.9:g.56913065T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000009116.3,