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rs138977195

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 4.5 Familial hypokalemia-hypomagnesemia (Gitelman syndrome)
(A;G) 3 Carrier of a mutation for familial hypokalemia-hypomagnesemia
(G;G) 0 common/normal
ReferenceGRCh38.p7 38.3/149
Chromosome16
Position56887967
GeneSLC12A3
is asnp
is mentioned by
dbSNPrs138977195
dbSNP (old)rs138977195
ClinGenrs138977195
ebirs138977195
HLIrs138977195
Exacrs138977195
Gnomadrs138977195
Varsomers138977195
Maprs138977195
PheGenIrs138977195
Biobankrs138977195
1000 genomesrs138977195
hgdprs138977195
ensemblrs138977195
gopubmedrs138977195
geneviewrs138977195
scholarrs138977195
googlers138977195
pharmgkbrs138977195
gwascentralrs138977195
openSNPrs138977195
23andMers138977195
23andMe allrs138977195
SNPshotrs138977195
SNPdbers138977195
MSV3drs138977195
GWAS Ctlgrs138977195
Max Magnitude4.5

SLC12A3 gene, c.2221G>A (p.Gly741Arg)

Minor allele is pathogenic for Familial hypokalemia-hypomagnesemia (Gitelman syndrome); recessively inherited

ClinVar
Risk Rs138977195(A;A)
Alt Rs138977195(A;A)
Reference Rs138977195(G;G)
Significance Other
Disease Familial hypokalemia-hypomagnesemia not provided
Variation info
Gene SLC12A3
CLNDBN Familial hypokalemia-hypomagnesemia not provided
Reversed 0
HGVS NC_000016.9:g.56921879G>A
CLNSRC UniProtKB (protein)
CLNACC RCV000190624.2, RCV000255367.1,