DisGeNET - a database of gene-disease associations

rs1057519902, H3-3A

N. diseases: 16

Disease: Neoplasms, Neuroepithelial ×

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Neoplasms, Neuroepithelial

CUI:	C0206715
Disease:	Neoplasms, Neuroepithelial

0.010

GeneticVariation

BEFREE

H3F3A-G34R mutant high grade neuroepithelial neoplasms with glial and dysplastic ganglion cell components.

2019