DisGeNET - a database of gene-disease associations

SMARCB1, SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1, 6598

N. diseases: 448; N. variants: 30

Disease: Schwannomatosis ×

Variant: rs1060503016 ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1060503016

rs1060503016

Entrez Id:	6598
Gene Symbol:	SMARCB1

SMARCB1

CUI:	C1335929
Disease:

Schwannomatosis

A

0.700

CausalMutation

CLINVAR