rs772887102, RARS2

N. diseases: 9
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
Progressive spasticity
CUI: C1859520
Disease: Progressive spasticity
0.700 CausalMutation CLINVAR
Flexion contracture
CUI: C0333068
Disease: Flexion contracture
0.700 CausalMutation CLINVAR
Scoliosis, unspecified
CUI: C0036439
Disease: Scoliosis, unspecified
0.700 CausalMutation CLINVAR
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
0.700 CausalMutation CLINVAR
Secondary microcephaly
CUI: C0431352
Disease: Secondary microcephaly
0.700 CausalMutation CLINVAR
Seizures
CUI: C0036572
Disease: Seizures
0.700 CausalMutation CLINVAR
Meibomian Cyst
CUI: C0007933
Disease: Meibomian Cyst
0.700 CausalMutation CLINVAR
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
0.700 CausalMutation CLINVAR