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rs201255508

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs201255508(C;T)
Make rs201255508(T;T)
ReferenceGRCh38.p7 38.3/149
Chromosome16
Position56865482
GeneSLC12A3
is asnp
is mentioned by
dbSNPrs201255508
dbSNP (classic)rs201255508
ClinGenrs201255508
ebirs201255508
HLIrs201255508
Exacrs201255508
Gnomadrs201255508
Varsomers201255508
LitVarrs201255508
Maprs201255508
PheGenIrs201255508
Biobankrs201255508
1000 genomesrs201255508
hgdprs201255508
ensemblrs201255508
geneviewrs201255508
scholarrs201255508
googlers201255508
pharmgkbrs201255508
gwascentralrs201255508
openSNPrs201255508
23andMers201255508
23andMe allrs201255508
SNPshotrs201255508
SNPdbers201255508
MSV3drs201255508
GWAS Ctlgrs201255508
Max Magnitude0
ClinVar
Risk rs201255508(T;T)
Alt rs201255508(T;T)
Reference Rs201255508(C;C)
Significance Probable-Pathogenic
Disease Familial hypokalemia-hypomagnesemia
Variation info
Gene SLC12A3
CLNDBN Familial hypokalemia-hypomagnesemia
Reversed 0
HGVS NC_000016.9:g.56899394C>T
CLNSRC Illumina
CLNACC RCV000380828.1,