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rs200817545

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs200817545(A;G)
Make rs200817545(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome16
Position56879168
GeneSLC12A3
is asnp
is mentioned by
dbSNPrs200817545
dbSNP (old)rs200817545
ClinGenrs200817545
ebirs200817545
HLIrs200817545
Exacrs200817545
Gnomadrs200817545
Varsomers200817545
Maprs200817545
PheGenIrs200817545
Biobankrs200817545
1000 genomesrs200817545
hgdprs200817545
ensemblrs200817545
gopubmedrs200817545
geneviewrs200817545
scholarrs200817545
googlers200817545
pharmgkbrs200817545
gwascentralrs200817545
openSNPrs200817545
23andMers200817545
23andMe allrs200817545
SNPshotrs200817545
SNPdbers200817545
MSV3drs200817545
GWAS Ctlgrs200817545
Max Magnitude0
ClinVar
Risk rs200817545(G;G) rs200817545(T;T)
Alt rs200817545(G;G) rs200817545(T;T)
Reference Rs200817545(A;A)
Significance Pathogenic
Disease Familial hypokalemia-hypomagnesemia
Variation info
Gene SLC12A3
CLNDBN Familial hypokalemia-hypomagnesemia
Reversed 0
HGVS NC_000016.9:g.56913080A>T
CLNSRC
CLNACC RCV000454555.1,