DisGeNET - a database of gene-disease associations

Central Nervous System Neoplasms, C0085136

Variant: rs121913499 ×

Source: ALL

Results per page

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs121913499

rs121913499

IDH1

0.010

GeneticVariation

BEFREE

Sanger sequencing revealed a common IDH1 R132C mutation among all three CNS tumors but not in blood DNA.

2018