Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1296383102
rs1296383102
HIBCH
0.010 GeneticVariation BEFREE Here, we report a female Chinese patient presenting with exercise-induced dystonia and bilateral symmetrical hyperintensities of the globus pallidus on brain MRI associated with novel HIBCH mutations (c.1027C>G;p. H343D and c.383T>A;p.V128D). 31679561

2019