Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121917851
rs121917851
TTPA
A 0.700 GeneticVariation CLINVAR Ataxia with vitamin E deficiency in southeast Norway, case report. 19566498

2009
dbSNP: rs121917851
rs121917851
TTPA
A 0.700 CausalMutation CLINVAR Molecular, clinical and peripheral neuropathy study of Tunisian patients with ataxia with vitamin E deficiency. 24369383

2014
dbSNP: rs1408863841
rs1408863841
TTPA
A 0.700 GeneticVariation CLINVAR

dbSNP: rs143010236
rs143010236
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: rs143010236
rs143010236
TTPA
T 0.800 GeneticVariation CLINVAR

dbSNP: rs143010236
rs143010236
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: rs143010236
rs143010236
TTPA
0.800 GeneticVariation UNIPROT EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. 20050888

2010
dbSNP: rs143010236
rs143010236
TTPA
0.800 GeneticVariation UNIPROT Molecular determinants of heritable vitamin E deficiency. 15065857

2004
dbSNP: rs143010236
rs143010236
TTPA
T 0.800 CausalMutation CLINVAR

dbSNP: rs143010236
rs143010236
TTPA
0.800 GeneticVariation UNIPROT EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood. 24418350

2014
dbSNP: rs143010236
rs143010236
TTPA
0.800 GeneticVariation UNIPROT Human alpha-tocopherol transfer protein: gene structure and mutations in familial vitamin E deficiency. 8602747

1996
dbSNP: rs143010236
rs143010236
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: rs1554524061
rs1554524061
TTPA
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
dbSNP: rs1554525125
rs1554525125
TTPA
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1554525128
rs1554525128
TTPA
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1554605498
rs1554605498
TTPA
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1554605631
rs1554605631
TTPA
ACTTAC 0.700 CausalMutation CLINVAR

dbSNP: rs1563363293
rs1563363293
TTPA
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1799983
rs1799983
NOS3
0.010 GeneticVariation BEFREE Our study gave a comprehensive insight into functional interaction between GNB3 and eNOS gene polymorphisms and suggests that the eNOS G894T and T-786C variants are strong predisposing factors of VED susceptibility within men with type 2 diabetes. 30101547

2018
dbSNP: rs181109321
rs181109321
TTPA
T 0.700 GeneticVariation CLINVAR

dbSNP: rs2070744
rs2070744
NOS3
0.010 GeneticVariation BEFREE A total of 164 type 2 diabetes patients with VED diagnosed with penile color Doppler ultrasonography and 148 age-matched healthy volunteers were genotyped for the rs1799983 (G894T) and rs2070744 (T-786C) of the eNOS gene and the rs5443 (C825T) of the GNB3 gene using the PCR-RFLP method. 30101547

2018
dbSNP: rs35916840
rs35916840
TTPA
0.800 GeneticVariation UNIPROT EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. 20050888

2010
dbSNP: rs35916840
rs35916840
TTPA
0.800 GeneticVariation UNIPROT EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood. 24418350

2014
dbSNP: rs35916840
rs35916840
TTPA
A 0.800 CausalMutation CLINVAR

dbSNP: rs397515377
rs397515377
TTPA
C 0.700 CausalMutation CLINVAR Molecular and clinical study of a cohort of 110 Algerian patients with autosomal recessive ataxia. 26068213

2015