Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1008240677
rs1008240677
TTPA
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516423
rs1057516423
TTPA
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057517448
rs1057517448
TTPA
C 0.700 GeneticVariation CLINVAR

dbSNP: rs121917849
rs121917849
TTPA
0.800 GeneticVariation UNIPROT Ataxia with isolated vitamin E deficiency: heterogeneity of mutations and phenotypic variability in a large number of families. 9463307

1998
dbSNP: rs121917849
rs121917849
TTPA
0.800 GeneticVariation UNIPROT Human alpha-tocopherol transfer protein: gene structure and mutations in familial vitamin E deficiency. 8602747

1996
dbSNP: rs121917849
rs121917849
TTPA
0.800 GeneticVariation UNIPROT Adult-onset spinocerebellar dysfunction caused by a mutation in the gene for the alpha-tocopherol-transfer protein. 7566022

1995
dbSNP: rs121917849
rs121917849
TTPA
0.800 GeneticVariation UNIPROT Molecular determinants of heritable vitamin E deficiency. 15065857

2004
dbSNP: rs121917849
rs121917849
TTPA
0.800 GeneticVariation UNIPROT EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood. 24418350

2014
dbSNP: rs121917849
rs121917849
TTPA
C 0.800 CausalMutation CLINVAR

dbSNP: rs121917849
rs121917849
TTPA
0.800 GeneticVariation UNIPROT Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPA gene in Italian families. 15300460

2004
dbSNP: rs121917849
rs121917849
TTPA
0.800 GeneticVariation UNIPROT EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. 20050888

2010
dbSNP: rs121917850
rs121917850
TTPA
T 0.800 GeneticVariation CLINVAR

dbSNP: rs121917850
rs121917850
TTPA
0.800 GeneticVariation UNIPROT Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPA gene in Italian families. 15300460

2004
dbSNP: rs121917850
rs121917850
TTPA
T 0.800 CausalMutation CLINVAR

dbSNP: rs121917850
rs121917850
TTPA
0.800 GeneticVariation UNIPROT Adult-onset spinocerebellar dysfunction caused by a mutation in the gene for the alpha-tocopherol-transfer protein. 7566022

1995
dbSNP: rs121917850
rs121917850
TTPA
0.800 GeneticVariation UNIPROT Molecular determinants of heritable vitamin E deficiency. 15065857

2004
dbSNP: rs121917850
rs121917850
TTPA
0.800 GeneticVariation UNIPROT Ataxia with isolated vitamin E deficiency: heterogeneity of mutations and phenotypic variability in a large number of families. 9463307

1998
dbSNP: rs121917850
rs121917850
TTPA
0.800 GeneticVariation UNIPROT Human alpha-tocopherol transfer protein: gene structure and mutations in familial vitamin E deficiency. 8602747

1996
dbSNP: rs121917851
rs121917851
TTPA
A 0.700 GeneticVariation CLINVAR A family with spinocerebellar ataxia type 8 expansion and vitamin E deficiency ataxia. 12470185

2002
dbSNP: rs121917851
rs121917851
TTPA
A 0.700 CausalMutation CLINVAR Ataxia with vitamin e deficiency in norway. 25614784

2015
dbSNP: rs121917851
rs121917851
TTPA
A 0.700 GeneticVariation CLINVAR Epilepsy in a patient with ataxia caused by vitamin E deficiency. 22696689

2011
dbSNP: rs121917851
rs121917851
TTPA
A 0.700 GeneticVariation CLINVAR Molecular, clinical and peripheral neuropathy study of Tunisian patients with ataxia with vitamin E deficiency. 24369383

2014
dbSNP: rs121917851
rs121917851
TTPA
A 0.700 CausalMutation CLINVAR Ataxia with isolated vitamin E deficiency: heterogeneity of mutations and phenotypic variability in a large number of families. 9463307

1998
dbSNP: rs121917851
rs121917851
TTPA
A 0.700 GeneticVariation CLINVAR Ataxia with isolated vitamin E deficiency: heterogeneity of mutations and phenotypic variability in a large number of families. 9463307

1998
dbSNP: rs121917851
rs121917851
TTPA
A 0.700 GeneticVariation CLINVAR The molecular basis of vitamin E retention: structure of human alpha-tocopherol transfer protein. 12899840

2003