|
rs104894106
|
|
|
0.810 |
GeneticVariation |
BEFREE |
The point mutations I154F and W155R in frataxin cause FRDA and are clustered to one surface of the protein, and these mutations decrease the interaction of frataxin with ISD11.
|
17331979 |
2007 |
|
rs146818694
|
|
|
0.720 |
GeneticVariation |
BEFREE |
The genotypic and phenotypic spectrum of FRDA was similar to other populations, with one patient compound heterozygote for a known point mutation in FXN (Asn146Lys).
|
24209901 |
2014 |
|
rs146818694
|
|
|
0.720 |
GeneticVariation |
BEFREE |
To reinvestigate the mutation spectrum, we searched for mutations including exon deletions in six patients heterozygous for the GAA repeat expansion and found two unknown missense mutations, p.Asn146Lys and p.Leu186Arg, in trans to the expanded FRDA allele.
|
15340363 |
2004 |
|
rs138034837
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Here, we report three Turkish siblings from consanguineous parents presenting with a CMT-like phenotype who carry a homozygous c.493C>T, p.Arg165Cys mutation in the FXN gene that is the only known causative gene for Friedreich's ataxia (FRDA).
|
31673878 |
2020 |
|
rs138471431
|
|
|
0.710 |
GeneticVariation |
BEFREE |
The point mutations I154F and W155R in frataxin cause FRDA and are clustered to one surface of the protein, and these mutations decrease the interaction of frataxin with ISD11.
|
17331979 |
2007 |
|
rs1217691063
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Overall, there was no significant association between <i>MTHFR</i> C677T (rs1801133) or A1298C (rs1801131) polymorphisms and the clinical response to fluoropyrimidine-based chemotherapy under all of the three genetic models (allele model, dominant model, and recessive model) and stratification analysis, except for the retrospective study subgroup in the dominant model of <i>MTHFR</i> C677T and the "5-Fu <i>+</i> FA" treatment group in the allele contrast of <i>MTHFR</i> A1298C.
|
30131855 |
2018 |
|
rs1801131
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Overall, there was no significant association between <i>MTHFR</i> C677T (rs1801133) or A1298C (rs1801131) polymorphisms and the clinical response to fluoropyrimidine-based chemotherapy under all of the three genetic models (allele model, dominant model, and recessive model) and stratification analysis, except for the retrospective study subgroup in the dominant model of <i>MTHFR</i> C677T and the "5-Fu <i>+</i> FA" treatment group in the allele contrast of <i>MTHFR</i> A1298C.
|
30131855 |
2018 |
|
rs1801133
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Overall, there was no significant association between <i>MTHFR</i> C677T (rs1801133) or A1298C (rs1801131) polymorphisms and the clinical response to fluoropyrimidine-based chemotherapy under all of the three genetic models (allele model, dominant model, and recessive model) and stratification analysis, except for the retrospective study subgroup in the dominant model of <i>MTHFR</i> C677T and the "5-Fu <i>+</i> FA" treatment group in the allele contrast of <i>MTHFR</i> A1298C.
|
30131855 |
2018 |
|
rs397507444
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Overall, there was no significant association between <i>MTHFR</i> C677T (rs1801133) or A1298C (rs1801131) polymorphisms and the clinical response to fluoropyrimidine-based chemotherapy under all of the three genetic models (allele model, dominant model, and recessive model) and stratification analysis, except for the retrospective study subgroup in the dominant model of <i>MTHFR</i> C677T and the "5-Fu <i>+</i> FA" treatment group in the allele contrast of <i>MTHFR</i> A1298C.
|
30131855 |
2018 |
|
rs143396368
|
|
|
0.010 |
GeneticVariation |
BEFREE |
p.R165P patients progress to a less disabling disease state than typical FRDA.
|
24816001 |
2014 |
|
rs1799945
|
|
|
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 |
|
rs1800562
|
|
|
0.010 |
GeneticVariation |
BEFREE |
It is hypothesized that the association between p.C282Y heterozygosity and an earlier age at FRDA onset relates to exacerbation of the already dysregulated iron metabolism that plays a major role in the pathogenesis of FRDA.
|
24390816 |
2014 |
|
rs1800872
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This study aimed to determine the distribution of two SNPs at -1082A/G and -592A/C (rs1800896 and rs1800872, respectively) in the IL-10 gene promoter of Taiwanese food allergy (FA) patients, and also to compare the serum IL-10 levels between patients with (FA) and controls.
|
23265747 |
2012 |
|
rs5186
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The AGTR1 polymorphism rs5186 was more common in FRDA</span> patients than in a control population (p=0.002).
|
21771600 |
2011 |
|
rs148443992
|
|
|
0.010 |
GeneticVariation |
BEFREE |
To reinvestigate the mutation spectrum, we searched for mutations including exon deletions in six patients heterozygous for the GAA repeat expansion and found two unknown missense mutations, p.Asn146Lys and p.Leu186Arg, in trans to the expanded FRDA allele.
|
15340363 |
2004 |