TTPA, alpha tocopherol transfer protein, 7274

N. diseases: 147; N. variants: 31
Disease: Ataxia with vitamin E deficiency ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs35916840
rs35916840
Entrez Id: 7274
Gene Symbol: TTPA
TTPA
CUI: C1848533
Disease:
Ataxia with vitamin E deficiency 		0.800 GeneticVariation UNIPROT EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood. 24418350 2014
dbSNP: rs35916840
rs35916840
Entrez Id: 7274
Gene Symbol: TTPA
TTPA
CUI: C1848533
Disease:
Ataxia with vitamin E deficiency 		0.800 GeneticVariation UNIPROT EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. 20050888 2010
dbSNP: rs35916840
rs35916840
Entrez Id: 7274
Gene Symbol: TTPA
TTPA
CUI: C1848533
Disease:
Ataxia with vitamin E deficiency 		A 0.800 CausalMutation CLINVAR