Disease: Dystonia Disorders ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434410
rs121434410
Entrez Id: 8575;101927027
Gene Symbol: PRKRA;CHROMR
PRKRA;CHROMR
CUI: C0393593
Disease:
Dystonia Disorders 		0.010 GeneticVariation BEFREE A recessively inherited form of early-onset dystonia DYT16 has been recently identified to arise due to a homozygous missense mutation P222L in PACT. 26231208 2015