Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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