{{Rsnum
|rsid=1552311
|Gene=SLC12A1
|Chromosome=15
|position=48288516
|Orientation=plus
|ReferenceAllele=T
|MissenseAllele=C
|GMAF=0.001377
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=SLC12A1
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 99.1 | 0.9 | 0.0
| HCB | 98.5 | 1.5 | 0.0
| JPT | 98.2 | 1.8 | 0.0
| YRI | 97.3 | 2.7 | 0.0
| ASW | 0.0 | 0.0 | 0.0
| CHB | 98.5 | 1.5 | 0.0
| CHD | 99.1 | 0.9 | 0.0
| GIH | 0.0 | 0.0 | 0.0
| LWK | 96.3 | 3.7 | 0.0
| MEX | 96.5 | 3.5 | 0.0
| MKK | 96.8 | 3.2 | 0.0
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=28
}}

{{Venter SNP
|rsid=1552311
|allele=C
|frequency=1
|uid=1103645604618
|type=homozygous_SNP
|hugo=SLC12A1
|ensembl gene=ENSG00000074803
|ensembl transcript=ENST00000219891
|sift=TOLERATED
|disease=Defects in SLC12A1 are the cause of antenatal Bartter syndrome type 1 (BS type 1) (MIM:601678). BS type 1 is a life- threatening condition beginning in utero, with marked fetal polyuria that leads to polyhydramnios and premature delivery. Another hallmark of this disease is a marked hypercalciuria and, as a secondary consequence, the development of nephrocalcinosis and osteopenia.
}}

{{GET Evidence
|gene=SLC12A1
|aa_change=Val958Ala
|aa_change_short=V958A
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs1552311
|overall_frequency_n=10636
|overall_frequency_d=10662
|overall_frequency=0.997561
|n_genomes=56
|n_genomes_annotated=0
|n_haplomes=112
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|genetests_testable=Y
|nblosum100=2
|autoscore=1
|webscore=N
}}

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