DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Adult Meningioma ×

Variant: rs3731249 ×

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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:

rs3731249

rs3731249

CDKN2A

CUI:	C0278877
Disease:	Adult Meningioma

Adult Meningioma

0.010

GeneticVariation

BEFREE

We report an undescribed p.(Ala148Thr) CDKN2A mutation in meningioma that was only present in relapsing tumors.

2019