{{Rsnum
|rsid=1529927
|Gene=SLC12A3
|Chromosome=16
|position=56870675
|Orientation=plus
|ReferenceAllele=G
|MissenseAllele=C
|GMAF=0.01791
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene_s=SLC12A3
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;G)
| geno3=(G;G)
| CEU | 0.0 | 16.9 | 83.1
| HCB | 0.0 | 0.0 | 100.0
| JPT | 0.0 | 0.0 | 100.0
| YRI | 0.0 | 0.0 | 100.0
| ASW | 0.0 | 0.0 | 0.0
| CHB | 0.0 | 0.0 | 100.0
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 0.0 | 0.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 0.0 | 0.0 | 0.0
| MKK | 0.0 | 0.0 | 0.0
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=28
}}{{Venter SNP
|rsid=1529927
|allele=G
|frequency=0.917
|uid=1103645483078
|type=homozygous_SNP
|hugo=SLC12A3
|ensembl gene=ENSG00000070915
|ensembl transcript=ENST00000262502
|sift=TOLERATED
|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.
}}

{{ neighbor
| rsid = 28936388
| distance = 556
}}

{{GET Evidence
|gene=SLC12A3
|aa_change=Ala264Gly
|aa_change_short=A264G
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs1529927
|overall_frequency_n=10469
|overall_frequency_d=10758
|overall_frequency=0.973136
|n_genomes=54
|n_genomes_annotated=0
|n_haplomes=105
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|genetests_testable=Y
|nblosum100=1
|autoscore=1
|webscore=N
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | HumanOmni1Quad}}