rs121913499, IDH1

N. diseases: 51
Disease: Astrocytoma ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Astrocytoma
CUI: C0004114
Disease: Astrocytoma
0.720 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968 2014
Astrocytoma
CUI: C0004114
Disease: Astrocytoma
0.720 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968 2014
Astrocytoma
CUI: C0004114
Disease: Astrocytoma
0.720 GeneticVariation CLINVAR Establishment of a novel monoclonal antibody SMab-1 specific for IDH1-R132S mutation. 21352804 2011
Astrocytoma
CUI: C0004114
Disease: Astrocytoma
0.720 GeneticVariation BEFREE Without exception, all were R132C (CGT-->TGT), which in sporadic astrocytomas accounts for <5% of IDH1 mutations. 19340432 2009
Astrocytoma
CUI: C0004114
Disease: Astrocytoma
0.720 GeneticVariation BEFREE IDH1 mutations of the R132C type are strongly associated with astrocytoma, while IDH2 mutations predominantly occur in oligodendroglial tumors. 19554337 2009