rs463312, TUBB1

N. diseases: 4
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Red Blood Cell Count measurement
CUI: C0014772
Disease: Red Blood Cell Count measurement
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
Cardiovascular Diseases
CUI: C0007222
Disease: Cardiovascular Diseases
0.020 GeneticVariation BEFREE A polymorphism in beta1-tubulin (TUBB1 Q43P), a protein specifically expressed in the megakaryocytic line, has been described as a protective factor in cardiovascular disease. 17488662 2007
Cardiovascular Diseases
CUI: C0007222
Disease: Cardiovascular Diseases
0.020 GeneticVariation BEFREE The prevalence of the Q43P beta1-tubulin variant was also 2 times higher (odds ratio, [OR] = 2.1;95% confidence interval [CI], 1.22-3.59) among control subjects than among patients with cardiovascular disease (10.4% versus 5.2%, P < .001). 15956286 2005
Macrothrombocytopenia
CUI: C2751260
Disease: Macrothrombocytopenia
0.010 GeneticVariation BEFREE The patient was heterozygous for Q43P, but this single-nucleotide polymorphism (SNP) did not relate to macrothrombocytopenia. 18849486 2009
Cerebrovascular accident
CUI: C0038454
Disease: Cerebrovascular accident
0.010 GeneticVariation BEFREE This is the first evidence linking the TUBB1 Q43P platelet polymorphism with hemorrhagic stroke in humans. 17488662 2007