DisGeNET - a database of gene-disease associations

Source: ALL

Disease: High grade glioma ×

Variant: rs121913500 ×

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Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs121913500

rs121913500

IDH1

CUI:	C4722099
Disease:	High grade glioma

High grade glioma

0.010

GeneticVariation

BEFREE

En bloc resection revealed a high-grade glioma with sarcomatous components that was immunoreactive for the R132H variant of IDH1 by antibody.

2017