DisGeNET - a database of gene-disease associations

rs121913500, IDH1

N. diseases: 96

Disease: Diffuse Glioma ×

Source: ALL

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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

Disease

N. SNPs_d

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

Diffuse Glioma

CUI:	C4289690
Disease:	Diffuse Glioma

7

0.529

0.600

2

208248388

missense variant

C/A;G;T

snv

4.0E-06

0.040

0.750

2012

2019