Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1212131663
rs1212131663
CAT
0.020 GeneticVariation BEFREE This method was sensitive for detection of G113A acatalasemia mutation, but poorly detected C37T and G5A acatalasemia mutations. 22286031

2012
dbSNP: rs1212131663
rs1212131663
CAT
0.020 GeneticVariation BEFREE The detection of a novel acatalasemia mutation (37C>T in exon 9) and the 113G>A (exon 9) mutation in Hungary are further proofs of genetic heterogeneity origin of acatalasemia mutations. 21947853

2012