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rs12708965

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs12708965(C;T)
Make rs12708965(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position56902407
GeneMIR6863, SLC12A3
is asnp
is mentioned by
dbSNPrs12708965
ebirs12708965
HLIrs12708965
Exacrs12708965
Varsomers12708965
Maprs12708965
PheGenIrs12708965
hapmaprs12708965
1000 genomesrs12708965
hgdprs12708965
ensemblrs12708965
gopubmedrs12708965
geneviewrs12708965
scholarrs12708965
googlers12708965
pharmgkbrs12708965
gwascentralrs12708965
openSNPrs12708965
23andMers12708965
23andMe allrs12708965
SNP Nexus

SNPshotrs12708965
SNPdbers12708965
MSV3drs12708965
GWAS Ctlgrs12708965
GMAF0.03673
Max Magnitude0
? (C;C) (C;T) (T;T) 28
Venter snp
Source plos
Gene SLC12A3
allele T
frequency 0
sift AFFECT FUNCTION
HuRef 1103645483157
Disease Association Defects in SLC12A3 are the cause of Gitelman syndrome (GS) (MIM:263800). GS is an autosomal recessive disease characterized by diverse abnormalities in electrolyte homeostasis including hypokalaemic metabolic alkalosis. GS is a subset of Bartter syndrome.



GET Evidence
SLC12A3-R928C
aa_change Arg928Cys
aa_change_short R928C
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0353226
summary