Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587776983
rs587776983
Entrez Id: 10382
Gene Symbol: TUBB4A
TUBB4A
CUI: C1851943
Disease:
DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT (disorder)
0.810 GeneticVariation BEFREE We present a study of the cellular effects of TUBB4A mutations responsible for H-ABC (p.Asp249Asn), DYT4 (p.Arg2Gly), a severe combined phenotype with hypomyelination and encephalopathy (p.Asn414Lys), as well as milder phenotypes causing isolated hypomyelination (p.Val255Ile and p.Arg282Pro). 28973395 2017
dbSNP: rs587776983
rs587776983
Entrez Id: 10382
Gene Symbol: TUBB4A
TUBB4A
CUI: C1851943
Disease:
DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT (disorder)
0.810 GeneticVariation UNIPROT
dbSNP: rs587776983
rs587776983
Entrez Id: 10382
Gene Symbol: TUBB4A
TUBB4A
CUI: C1851943
Disease:
DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT (disorder)
C 0.810 CausalMutation CLINVAR