rs483352771, TERT

N. diseases: 1
Disease: Aplastic Anemia ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Aplastic Anemia
CUI: C0002874
Disease: Aplastic Anemia
0.700 GeneticVariation UNIPROT Defining the pathogenic role of telomerase mutations in myelodysplastic syndrome and acute myeloid leukemia. 19760749 2009
Aplastic Anemia
CUI: C0002874
Disease: Aplastic Anemia
0.700 GeneticVariation UNIPROT Functional characterization of natural telomerase mutations found in patients with hematologic disorders. 16990594 2007
Aplastic Anemia
CUI: C0002874
Disease: Aplastic Anemia
0.700 GeneticVariation UNIPROT Mutations in telomerase catalytic protein in Japanese children with aplastic anemia. 16627250 2006
Aplastic Anemia
CUI: C0002874
Disease: Aplastic Anemia
0.700 GeneticVariation UNIPROT Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure. 15885610 2005