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rs28936388

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs28936388(C;T)
Make rs28936388(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position56870119
GeneSLC12A3
is asnp
is mentioned by
dbSNPrs28936388
ebirs28936388
HLIrs28936388
Exacrs28936388
Varsomers28936388
Maprs28936388
PheGenIrs28936388
hapmaprs28936388
1000 genomesrs28936388
hgdprs28936388
ensemblrs28936388
gopubmedrs28936388
geneviewrs28936388
scholarrs28936388
googlers28936388
pharmgkbrs28936388
gwascentralrs28936388
openSNPrs28936388
23andMers28936388
23andMe allrs28936388
SNP Nexus

SNPshotrs28936388
SNPdbers28936388
MSV3drs28936388
GWAS Ctlgrs28936388
Max Magnitude0
OMIM600968
DescGITELMAN SYNDROME
Variant0003
Relatedalso
Neighborrs1529927
Distance556


ClinVar
Risk rs28936388(T;T)
Alt rs28936388(T;T)
Reference rs28936388(C;C)
Significance Pathogenic
Disease Familial hypokalemia-hypomagnesemia
Variation info
Gene SLC12A3
CLNDBN Familial hypokalemia-hypomagnesemia
Reversed 0
HGVS NC_000016.9:g.56904031C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009117.2,