{{Rsnum
|rsid=12708965
|Gene=SLC12A3
|Chromosome=16
|position=56902407
|Orientation=plus
|ReferenceAllele=C
|MissenseAllele=T
|GMAF=0.03673
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=MIR6863,SLC12A3
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 97.3 | 2.7 | 0.0
| HCB | 96.4 | 3.6 | 0.0
| JPT | 97.3 | 2.7 | 0.0
| YRI | 89.7 | 10.3 | 0.0
| ASW | 87.7 | 12.3 | 0.0
| CHB | 96.4 | 3.6 | 0.0
| CHD | 0.0 | 0.0 | 0.0
| GIH | 96.0 | 4.0 | 0.0
| LWK | 82.7 | 16.4 | 0.9
| MEX | 86.2 | 13.8 | 0.0
| MKK | 91.0 | 9.0 | 0.0
| TSI | 93.1 | 6.9 | 0.0
| HapMapRevision=28
}}{{Venter SNP
|rsid=12708965
|allele=T
|frequency=0
|uid=1103645483157
|type=heterozygous_SNP
|hugo=SLC12A3
|ensembl gene=ENSG00000070915
|ensembl transcript=ENST00000262502
|sift=AFFECT FUNCTION
|disease=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
|gene=SLC12A3
|aa_change=Arg928Cys
|aa_change_short=R928C
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs12708965
|overall_frequency_n=380
|overall_frequency_d=10758
|overall_frequency=0.0353226
|n_genomes=10
|n_genomes_annotated=0
|n_haplomes=10
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|genetests_testable=Y
|nblosum100=8
|autoscore=3
|n_web_uneval=8
}}

{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}