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: rs137853157
rs137853157
Entrez Id: 6557;107984758
Gene Symbol: SLC12A1;LOC107984758
SLC12A1;LOC107984758
CUI: C1866495
Disease:
Bartter syndrome, antenatal type 1 		0.800 GeneticVariation UNIPROT Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2. 8640224 1996
dbSNP: rs137853157
rs137853157
Entrez Id: 6557;107984758
Gene Symbol: SLC12A1;LOC107984758
SLC12A1;LOC107984758
CUI: C1866495
Disease:
Bartter syndrome, antenatal type 1 		A 0.800 CausalMutation CLINVAR