Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894106
rs104894106
FXN
T 0.810 CausalMutation CLINVAR

dbSNP: rs104894105
rs104894105
FXN
G 0.800 CausalMutation CLINVAR

dbSNP: rs104894107
rs104894107
FXN
T 0.800 CausalMutation CLINVAR

dbSNP: rs146818694
rs146818694
FXN
G 0.720 CausalMutation CLINVAR

dbSNP: rs138034837
rs138034837
FXN
0.710 GeneticVariation UNIPROT

dbSNP: rs138471431
rs138471431
FXN
0.710 GeneticVariation UNIPROT

dbSNP: rs104894108
rs104894108
FXN
T 0.700 CausalMutation CLINVAR

dbSNP: rs140987490
rs140987490
FXN
G 0.700 CausalMutation CLINVAR

dbSNP: rs141935559
rs141935559
FXN
G 0.700 CausalMutation CLINVAR

dbSNP: rs142157346
rs142157346
FXN
0.700 GeneticVariation UNIPROT

dbSNP: rs56214919
rs56214919
FXN
G 0.700 GeneticVariation CLINVAR

dbSNP: rs886037630
rs886037630
FXN
TACACCTTGAGGACA 0.700 CausalMutation CLINVAR

dbSNP: rs104894106
rs104894106
FXN
0.810 GeneticVariation UNIPROT Atypical Friedreich ataxia caused by compound heterozygosity for a novel missense mutation and the GAA triplet-repeat expansion. 9150176

1997

dbSNP: rs104894105
rs104894105
FXN
0.800 GeneticVariation UNIPROT Atypical Friedreich ataxia caused by compound heterozygosity for a novel missense mutation and the GAA triplet-repeat expansion. 9150176

1997

dbSNP: rs104894107
rs104894107
FXN
0.800 GeneticVariation UNIPROT Atypical Friedreich ataxia caused by compound heterozygosity for a novel missense mutation and the GAA triplet-repeat expansion. 9150176

1997

dbSNP: rs139616452
rs139616452
FXN
0.700 GeneticVariation UNIPROT Atypical Friedreich ataxia caused by compound heterozygosity for a novel missense mutation and the GAA triplet-repeat expansion. 9150176

1997

dbSNP: rs144104124
rs144104124
FXN
0.700 GeneticVariation UNIPROT Atypical Friedreich ataxia caused by compound heterozygosity for a novel missense mutation and the GAA triplet-repeat expansion. 9150176

1997

dbSNP: rs104894106
rs104894106
FXN
0.810 GeneticVariation UNIPROT Identification of a missense mutation in a Friedreich's ataxia patient: implications for diagnosis and carrier studies. 9779809

1998

dbSNP: rs104894105
rs104894105
FXN
0.800 GeneticVariation UNIPROT Identification of a missense mutation in a Friedreich's ataxia patient: implications for diagnosis and carrier studies. 9779809

1998

dbSNP: rs104894107
rs104894107
FXN
0.800 GeneticVariation UNIPROT Identification of a missense mutation in a Friedreich's ataxia patient: implications for diagnosis and carrier studies. 9779809

1998

dbSNP: rs139616452
rs139616452
FXN
0.700 GeneticVariation UNIPROT Identification of a missense mutation in a Friedreich's ataxia patient: implications for diagnosis and carrier studies. 9779809

1998

dbSNP: rs144104124
rs144104124
FXN
0.700 GeneticVariation UNIPROT Identification of a missense mutation in a Friedreich's ataxia patient: implications for diagnosis and carrier studies. 9779809

1998

dbSNP: rs104894106
rs104894106
FXN
0.810 GeneticVariation UNIPROT Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes. 9989622

1999

dbSNP: rs104894105
rs104894105
FXN
0.800 GeneticVariation UNIPROT Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes. 9989622

1999

dbSNP: rs104894107
rs104894107
FXN
0.800 GeneticVariation UNIPROT Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes. 9989622

1999