Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs373893038
rs373893038
TRIO
0.010 GeneticVariation BEFREE The TRIO p.A1214V variant is associated with cerebellar ataxia in the studied family; it was present in all affected and unaffected family members.Phenotype is severe and broad. 30279051

2019