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: rs886040963
rs886040963
Entrez Id: 7274
Gene Symbol: TTPA
TTPA
CUI: C1848533
Disease:
Ataxia with vitamin E deficiency 		A 0.700 CausalMutation CLINVAR Molecular, clinical and peripheral neuropathy study of Tunisian patients with ataxia with vitamin E deficiency. 24369383 2014
dbSNP: rs886040963
rs886040963
Entrez Id: 7274
Gene Symbol: TTPA
TTPA
CUI: C1848533
Disease:
Ataxia with vitamin E deficiency 		G 0.700 GeneticVariation CLINVAR Molecular, clinical and peripheral neuropathy study of Tunisian patients with ataxia with vitamin E deficiency. 24369383 2014
dbSNP: rs886040963
rs886040963
Entrez Id: 7274
Gene Symbol: TTPA
TTPA
CUI: C1848533
Disease:
Ataxia with vitamin E deficiency 		G 0.700 GeneticVariation CLINVAR Ataxia with isolated vitamin E deficiency: heterogeneity of mutations and phenotypic variability in a large number of families. 9463307 1998