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

2014