Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs748787734
rs748787734
TUBB4A
CUI: C0028738
Disease: Nystagmus
Nystagmus 		C 0.700 GeneticVariation CLINVAR Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation. 24785942

2014