Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913500
rs121913500
IDH1
CUI: C4551548
Disease: Grade III Childhood Astrocytoma
Grade III Childhood Astrocytoma 		0.050 GeneticVariation BEFREE The histopathologic examination confirmed a leptomeningeal spread of a K27M-mutated anaplastic astrocytoma (WHO° III) without R132H-IDH1 mutation. 29066318

2018
dbSNP: rs121913500
rs121913500
IDH1
CUI: C4551548
Disease: Grade III Childhood Astrocytoma
Grade III Childhood Astrocytoma 		0.050 GeneticVariation BEFREE Mutated IDH1 R132H protein was expressed in 2 GBM from adult patients with previous supratentorial anaplastic astrocytoma. 30203362

2018
dbSNP: rs121913500
rs121913500
IDH1
CUI: C4551548
Disease: Grade III Childhood Astrocytoma
Grade III Childhood Astrocytoma 		0.050 GeneticVariation BEFREE The R132H mutation in IDH1 was found in 60.5% (23/38) of patients in the AA cohort (Groups 2 and 4) and 20.0% (13/65) of patients from our GBM cohort (Groups 3 and 5), whereas all patients with ODG (Group 1) had a mutation either in IDH1 (n = 62) or IDH2 (n = 3). 28851427

2017
dbSNP: rs121913500
rs121913500
IDH1
CUI: C4551548
Disease: Grade III Childhood Astrocytoma
Grade III Childhood Astrocytoma 		0.050 GeneticVariation BEFREE We describe a patient who underwent surgical resection, followed by adjuvant radiation and temozolomide of a World Health Organization (WHO) III anaplastic astrocytoma in the right temporal lobe, exhibiting an IDH1 (R132H) mutation. 26911558

2016
dbSNP: rs121913500
rs121913500
IDH1
CUI: C4551548
Disease: Grade III Childhood Astrocytoma
Grade III Childhood Astrocytoma 		0.050 GeneticVariation BEFREE We show that expression levels of many proteins are altered in IDH1(R132H) mutant anaplastic astrocytoma. 24473683

2014