Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913500
rs121913500
IDH1
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		T 0.800 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121913500
rs121913500
IDH1
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		A 0.800 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121913500
rs121913500
IDH1
CUI: C0004114
Disease: Astrocytoma
Astrocytoma 		T 0.800 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs121913500
rs121913500
IDH1
CUI: C0004114
Disease: Astrocytoma
Astrocytoma 		T 0.800 GeneticVariation CLINVAR IDH1 R132H mutations occur in approximately 70% of astrocytomas and oligodendroglial tumors. 19798509

2009
dbSNP: rs121913500
rs121913500
IDH1
CUI: C0004114
Disease: Astrocytoma
Astrocytoma 		T 0.800 GeneticVariation CLINVAR Furthermore, IMab-1 specifically stained the IDH1(R132H)-expressing cells in astrocytomas in immunohistochemistry, whereas it did not react with IDH1(R132H)-negative primary glioblastoma sections. 19818334

2009
dbSNP: rs121913500
rs121913500
IDH1
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		T 0.790 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121913500
rs121913500
IDH1
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		A 0.790 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121913500
rs121913500
IDH1
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		T 0.790 GeneticVariation CLINVAR An inhibitor of mutant IDH1 delays growth and promotes differentiation of glioma cells. 23558169

2013
dbSNP: rs121913500
rs121913500
IDH1
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		A 0.760 CausalMutation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121913500
rs121913500
IDH1
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		T 0.760 CausalMutation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121913500
rs121913500
IDH1
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		T 0.760 CausalMutation CLINVAR Molecular evaluation of DNMT3A and IDH1/2 gene mutation: frequency, distribution pattern and associations with additional molecular markers in normal karyotype Indian acute myeloid leukemia patients. 24606448

2014
dbSNP: rs121913500
rs121913500
IDH1
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		T 0.760 CausalMutation CLINVAR Prognostic relevance of integrated genetic profiling in acute myeloid leukemia. 22417203

2012
dbSNP: rs121913500
rs121913500
IDH1
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		T 0.760 CausalMutation CLINVAR The role of mutations in epigenetic regulators in myeloid malignancies. 22898539

2012
dbSNP: rs121913500
rs121913500
IDH1
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		G 0.760 CausalMutation CLINVAR Prognostic relevance of integrated genetic profiling in acute myeloid leukemia. 22417203

2012
dbSNP: rs121913500
rs121913500
IDH1
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		A 0.760 CausalMutation CLINVAR The role of mutations in epigenetic regulators in myeloid malignancies. 22898539

2012
dbSNP: rs121913500
rs121913500
IDH1
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		T 0.760 CausalMutation CLINVAR Molecular alterations of isocitrate dehydrogenase 1 and 2 (IDH1 and IDH2) metabolic genes and additional genetic mutations in newly diagnosed acute myeloid leukemia patients. 22397365

2012
dbSNP: rs121913500
rs121913500
IDH1
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		A 0.760 CausalMutation CLINVAR Molecular alterations of isocitrate dehydrogenase 1 and 2 (IDH1 and IDH2) metabolic genes and additional genetic mutations in newly diagnosed acute myeloid leukemia patients. 22397365

2012
dbSNP: rs121913500
rs121913500
IDH1
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		G 0.760 CausalMutation CLINVAR The role of mutations in epigenetic regulators in myeloid malignancies. 22898539

2012
dbSNP: rs121913500
rs121913500
IDH1
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		A 0.760 CausalMutation CLINVAR Prognostic relevance of integrated genetic profiling in acute myeloid leukemia. 22417203

2012
dbSNP: rs121913500
rs121913500
IDH1
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		A 0.760 CausalMutation CLINVAR Impact of genetic features on treatment decisions in AML. 22160010

2011
dbSNP: rs121913500
rs121913500
IDH1
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		G 0.760 CausalMutation CLINVAR Impact of genetic features on treatment decisions in AML. 22160010

2011
dbSNP: rs121913500
rs121913500
IDH1
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		T 0.760 CausalMutation CLINVAR Impact of genetic features on treatment decisions in AML. 22160010

2011
dbSNP: rs121913500
rs121913500
IDH1
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		T 0.760 CausalMutation CLINVAR Recurring mutations found by sequencing an acute myeloid leukemia genome. 19657110

2009
dbSNP: rs121913500
rs121913500
IDH1
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		T 0.710 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121913500
rs121913500
IDH1
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		A 0.710 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016