SLC12A1, solute carrier family 12 member 1, 6557

N. diseases: 87; N. variants: 29
Disease: Nephrocalcinosis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs779588655
rs779588655
Entrez Id: 6557
Gene Symbol: SLC12A1
SLC12A1
CUI: C0027709
Disease:
Nephrocalcinosis 		A 0.700 GeneticVariation CLINVAR Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis. 28893421 2018