TUBB1, tubulin beta 1 class VI, 81027

N. diseases: 22; N. variants: 14
Disease: Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918555
rs121918555
Entrez Id: 81027
Gene Symbol: TUBB1
TUBB1
CUI: C2751259
Disease:
Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related 		0.800 GeneticVariation UNIPROT Mutation of the beta1-tubulin gene associated with congenital macrothrombocytopenia affecting microtubule assembly. 18849486 2009
dbSNP: rs121918555
rs121918555
Entrez Id: 81027
Gene Symbol: TUBB1
TUBB1
CUI: C2751259
Disease:
Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related 		T 0.800 CausalMutation CLINVAR