rs542343726, BRCA2

N. diseases: 1
Disease: Mitochondrial Diseases ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Mitochondrial Diseases
CUI: C0751651
Disease: Mitochondrial Diseases
0.010 GeneticVariation BEFREE The discovery of the c.1054C>T; p.R352W mutation in the FOXRED1 gene is a further contribution towards resolving the complex puzzle of the genetic basis of human mitochondrial disease. 20858599 2010