Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs398122917
rs398122917
Entrez Id: 1193
Gene Symbol: CLIC2
CLIC2
CUI: C0018802
Disease:
Congestive heart failure
0.010 GeneticVariation BEFREE Utilizing exome capture and deep sequencing of genes on the X-chromosome, we have identified a mutation in CLIC2 (c.303C>G, p.H101Q) which is associated with X-linked intellectual disability (ID), atrial fibrillation, cardiomegaly, congestive heart failure (CHF), some somatic features and seizures. 22814392 2012