Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894107
rs104894107
FXN
0.020 GeneticVariation BEFREE In agreement, the iron metallochaperone activity of the Friedreich's ataxia mutants was affected: some mutants precipitate upon iron binding (I154F and W155R) and others have a lower binding stoichiometry (G130V and D122Y). 18537827

2008
dbSNP: rs104894107
rs104894107
FXN
0.020 GeneticVariation BEFREE This report confirms that compound heterozygous patients with FA who have a GAA expansion and a G130V mutation may present with an ataxic phenotype and that intrafamilial phenotypic variability in these pedigrees can occur. 11843702

2002
dbSNP: rs104894105
rs104894105
FXN
0.010 GeneticVariation BEFREE Molecular testing for Friedreich ataxia showed significantly expanded GAA repeats at 799 (abnormal >67 GAA repeats) on one allele and a heterozygous disease causing mutation, c.317T>C (p.Leu106Ser) on the other allele, confirming the diagnosis. 25149925

2014
dbSNP: rs1336452397
rs1336452397
FXN
0.010 GeneticVariation BEFREE Molecular testing for Friedreich ataxia showed significantly expanded GAA repeats at 799 (abnormal >67 GAA repeats) on one allele and a heterozygous disease causing mutation, c.317T>C (p.Leu106Ser) on the other allele, confirming the diagnosis. 25149925

2014
dbSNP: rs143396368
rs143396368
FXN
0.010 GeneticVariation BEFREE Atypical Friedreich ataxia in patients with FXN p.R165P point mutation or comorbid hemochromatosis. 24816001

2014
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
0.010 GeneticVariation BEFREE One hundred seventy individuals with FRDA were assessed for the association of HFE p.C282Y and p.H63D with (1) age at disease onset and (2) Friedreich Ataxia Rating Scale (FARS) score. 24390816

2014
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
0.010 GeneticVariation BEFREE One hundred seventy individuals with FRDA were assessed for the association of HFE p.C282Y and p.H63D with (1) age at disease onset and (2) Friedreich Ataxia Rating Scale (FARS) score. 24390816

2014
dbSNP: rs104894106
rs104894106
FXN
0.010 GeneticVariation BEFREE In agreement, the iron metallochaperone activity of the Friedreich's ataxia mutants was affected: some mutants precipitate upon iron binding (I154F and W155R) and others have a lower binding stoichiometry (G130V and D122Y). 18537827

2008
dbSNP: rs138471431
rs138471431
FXN
0.010 GeneticVariation BEFREE In agreement, the iron metallochaperone activity of the Friedreich's ataxia mutants was affected: some mutants precipitate upon iron binding (I154F and W155R) and others have a lower binding stoichiometry (G130V and D122Y). 18537827

2008
dbSNP: rs142157346
rs142157346
FXN
0.010 GeneticVariation BEFREE In agreement, the iron metallochaperone activity of the Friedreich's ataxia mutants was affected: some mutants precipitate upon iron binding (I154F and W155R) and others have a lower binding stoichiometry (G130V and D122Y). 18537827

2008
dbSNP: rs1187796945
rs1187796945
GAA
0.010 GeneticVariation BEFREE This report describes the clinical and molecular findings in a 6-year-old patient with Friedreich's ataxia who carried a pathologic GAA expansion of approximately 1,000 repeats on one allele and a novel initiation codon point mutation (3G-->A) on the other. 10913738

2000
dbSNP: rs1245992455
rs1245992455
GAA
0.010 GeneticVariation BEFREE This report describes the clinical and molecular findings in a 6-year-old patient with Friedreich's ataxia who carried a pathologic GAA expansion of approximately 1,000 repeats on one allele and a novel initiation codon point mutation (3G-->A) on the other. 10913738

2000