DisGeNET - a database of gene-disease associations

RHABDOID TUMOR PREDISPOSITION SYNDROME 1 (disorder), C1836327

Variant: rs1568937197 ×

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:

rs1568937197

SMARCB1

0.700

CausalMutation

CLINVAR

Frequent hSNF5/INI1 germline mutations in patients with rhabdoid tumor.

21208904

2011

dbSNP:

rs1568937197

SMARCB1

0.700

CausalMutation

CLINVAR

Alterations in the SMARCB1 (INI1) tumor suppressor gene in familial schwannomatosis.

18647326

2008

dbSNP:

rs1568937197

SMARCB1

0.700

CausalMutation

CLINVAR

Constitutional mutations of the hSNF5/INI1 gene predispose to a variety of cancers.

10521299

1999