rs181109321, TTPA

N. diseases: 17
Disease: Cerebellar Ataxia ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Cerebellar Ataxia
CUI: C0007758
Disease: Cerebellar Ataxia
0.010 GeneticVariation BEFREE A 14-year-old male patient presented with ataxia and mental symptoms caused by a homozygous (552G-->A) alpha-tocopherol transfer protein mutation. 9931538 1999