Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1293789661
rs1293789661
CLCN2
0.710 GeneticVariation BEFREE Eight probands had novel heterozygous variants in CLCN2, including two de novo mutations and four independent occurrences of a mutation encoding an identical p.Arg172Gln substitution; all relatives with early-onset primary aldosteronism carried the CLCN2 variant found in the proband. 29403011

2018
dbSNP: rs1293789661
rs1293789661
CLCN2
T 0.710 CausalMutation CLINVAR