Gene: FXN ×
Source: ALL
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: rs143396368
rs143396368
FXN
0.010 GeneticVariation BEFREE p.R165P patients progress to a less disabling disease state than typical FRDA. 24816001

2014
dbSNP: rs104894106
rs104894106
FXN
0.810 GeneticVariation UNIPROT A novel missense mutation (L198R) in the Friedreich's ataxia gene. 10874325

2000
dbSNP: rs104894105
rs104894105
FXN
0.800 GeneticVariation UNIPROT A novel missense mutation (L198R) in the Friedreich's ataxia gene. 10874325

2000
dbSNP: rs104894107
rs104894107
FXN
0.800 GeneticVariation UNIPROT A novel missense mutation (L198R) in the Friedreich's ataxia gene. 10874325

2000
dbSNP: rs139616452
rs139616452
FXN
0.700 GeneticVariation UNIPROT A novel missense mutation (L198R) in the Friedreich's ataxia gene. 10874325

2000
dbSNP: rs144104124
rs144104124
FXN
0.700 GeneticVariation UNIPROT A novel missense mutation (L198R) in the Friedreich's ataxia gene. 10874325

2000
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 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