Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs483352771
rs483352771
0.700 GeneticVariation UNIPROT Defining the pathogenic role of telomerase mutations in myelodysplastic syndrome and acute myeloid leukemia. 19760749

2009

dbSNP: rs483352771
rs483352771
0.700 GeneticVariation UNIPROT Functional characterization of natural telomerase mutations found in patients with hematologic disorders. 16990594

2007

dbSNP: rs483352771
rs483352771
0.700 GeneticVariation UNIPROT Mutations in telomerase catalytic protein in Japanese children with aplastic anemia. 16627250

2006

dbSNP: rs483352771
rs483352771
0.700 GeneticVariation UNIPROT Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure. 15885610

2005