rs772887102, RARS2

N. diseases: 9
Disease: Pontocerebellar Hypoplasia Type 6 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Pontocerebellar Hypoplasia Type 6
CUI: C1969084
Disease: Pontocerebellar Hypoplasia Type 6
0.700 CausalMutation CLINVAR Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. 26795593 2016
Pontocerebellar Hypoplasia Type 6
CUI: C1969084
Disease: Pontocerebellar Hypoplasia Type 6
0.700 CausalMutation CLINVAR Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions. 25356970 2015