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: rs1554524061
rs1554524061
Entrez Id: 7274
Gene Symbol: TTPA
TTPA
CUI: C1848533
Disease:
Ataxia with vitamin E deficiency 		AAT 0.700 GeneticVariation CLINVAR A novel delins mutation in the alpha-TTP gene in a family segregating ataxia with isolated vitamin E deficiency. 18458655 2008