rs200053119, SCARB2

N. diseases: 2
Disease: Action Myoclonus-Renal Failure Syndrome ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Action Myoclonus-Renal Failure Syndrome
CUI: C0751779
Disease: Action Myoclonus-Renal Failure Syndrome
0.700 CausalMutation CLINVAR Progressive myoclonus epilepsy: extraneuronal brown pigment deposition and system neurodegeneration in the brains of Japanese patients with novel SCARB2 mutations. 23659519 2014
Action Myoclonus-Renal Failure Syndrome
CUI: C0751779
Disease: Action Myoclonus-Renal Failure Syndrome
0.700 GeneticVariation CLINVAR