Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913500
rs121913500
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
CUI: C4086152
Disease:
Childhood Astrocytoma
0.040 GeneticVariation BEFREE Of these, we recommend, OA,NOS and IDH1(R132H)-non-mt ODG,NOS to be our priority for performing 1p/19q co-deletion studies in comparison to IDH-mt ODG,NOS, and it would not be mandatory for astrocytoma. 28801347 2018
dbSNP: rs121913500
rs121913500
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
CUI: C4086152
Disease:
Childhood Astrocytoma
0.040 GeneticVariation BEFREE Here, an in-depth characterization of IDH1 R132H mutations were assessed by immunohistochemistry in 55 paired primary-recurrent astrocytomas tissues, including 5 paired primary pilocytic astrocytoma (pPA, WHO grade I), 35 paired primary low grade astrocytoma (pLGA, WHO grade II and III) and 15 paired primary high grade astrocytoma (pHGA/ Glioblastoma, WHO grade IV). 28928859 2017
dbSNP: rs121913500
rs121913500
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
CUI: C4086152
Disease:
Childhood Astrocytoma
0.040 GeneticVariation BEFREE ATRX and IDH1-R132H immunohistochemistry with subsequent copy number analysis and IDH sequencing as a basis for an "integrated" diagnostic approach for adult astrocytoma, oligodendroglioma and glioblastoma. 25427834 2015
dbSNP: rs121913500
rs121913500
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
CUI: C4086152
Disease:
Childhood Astrocytoma
0.040 GeneticVariation BEFREE As the presence of the p.R132H mutation in the IDH1 gene seems to be a more powerful prognostic marker than O(6)-methylguanine-DNA methyltransferase promoter status, we evaluated the presence of IDH1 mutation in Polish patients with astrocytoma, glioblastoma, oligoastrocytoma, ganglioglioma, oligodendroglioma, and ependymoma. 23934769 2014
dbSNP: rs1040177874
rs1040177874
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
CUI: C4086152
Disease:
Childhood Astrocytoma
0.010 GeneticVariation BEFREE Identification of a novel inactivating mutation in Isocitrate Dehydrogenase 1 (IDH1-R314C) in a high grade astrocytoma. 27460417 2016
dbSNP: rs121913499
rs121913499
Entrez Id: 3417
Gene Symbol: IDH1
IDH1
CUI: C4086152
Disease:
Childhood Astrocytoma
0.010 GeneticVariation BEFREE IDH1 mutations of the R132C type are strongly associated with astrocytoma, while IDH2 mutations predominantly occur in oligodendroglial tumors. 19554337 2009