SLC12A1, solute carrier family 12 member 1, 6557

N. diseases: 87; N. variants: 29
Disease: Bartter syndrome, antenatal type 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs765347751
rs765347751
Entrez Id: 6557;107984758
Gene Symbol: SLC12A1;LOC107984758
SLC12A1;LOC107984758
CUI: C1866495
Disease:
Bartter syndrome, antenatal type 1 		A 0.700 GeneticVariation CLINVAR A novel SLC12A1 gene mutation associated with hyperparathyroidism, hypercalcemia, nephrogenic diabetes insipidus, and nephrocalcinosis in four patients. 28095294 2017
dbSNP: rs765347751
rs765347751
Entrez Id: 6557;107984758
Gene Symbol: SLC12A1;LOC107984758
SLC12A1;LOC107984758
CUI: C1866495
Disease:
Bartter syndrome, antenatal type 1 		A 0.700 GeneticVariation CLINVAR Long-term follow-up of patients with Bartter syndrome type I and II. 20219833 2010
dbSNP: rs765347751
rs765347751
Entrez Id: 6557;107984758
Gene Symbol: SLC12A1;LOC107984758
SLC12A1;LOC107984758
CUI: C1866495
Disease:
Bartter syndrome, antenatal type 1 		A 0.700 GeneticVariation CLINVAR Mutations in the human Na-K-2Cl cotransporter (NKCC2) identified in Bartter syndrome type I consistently result in nonfunctional transporters. 12761241 2003
dbSNP: rs765347751
rs765347751
Entrez Id: 6557;107984758
Gene Symbol: SLC12A1;LOC107984758
SLC12A1;LOC107984758
CUI: C1866495
Disease:
Bartter syndrome, antenatal type 1 		A 0.700 GeneticVariation CLINVAR Novel molecular variants of the Na-K-2Cl cotransporter gene are responsible for antenatal Bartter syndrome. 9585600 1998