Disease: RHABDOID TUMOR PREDISPOSITION SYNDROME 1 (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555877286
rs1555877286
Entrez Id: 6598
Gene Symbol: SMARCB1
SMARCB1
CUI: C1836327
Disease:
RHABDOID TUMOR PREDISPOSITION SYNDROME 1 (disorder) 		T 0.700 CausalMutation CLINVAR Whole Exome- and mRNA-Sequencing of an AT/RT Case Reveals Few Somatic Mutations and Several Deregulated Signalling Pathways in the Context of SMARCB1 Deficiency. 26998479 2015
dbSNP: rs1555877286
rs1555877286
Entrez Id: 6598
Gene Symbol: SMARCB1
SMARCB1
CUI: C1836327
Disease:
RHABDOID TUMOR PREDISPOSITION SYNDROME 1 (disorder) 		T 0.700 CausalMutation CLINVAR SMARCB1 mutations in schwannomatosis and genotype correlations with rhabdoid tumors. 24933152 2014
dbSNP: rs875989800
rs875989800
Entrez Id: 6598
Gene Symbol: SMARCB1
SMARCB1
CUI: C1836327
Disease:
RHABDOID TUMOR PREDISPOSITION SYNDROME 1 (disorder) 		G 0.700 GeneticVariation CLINVAR Coffin-Siris syndrome is a SWI/SNF complex disorder. 23815551 2014
dbSNP: rs875989800
rs875989800
Entrez Id: 6598
Gene Symbol: SMARCB1
SMARCB1
CUI: C1836327
Disease:
RHABDOID TUMOR PREDISPOSITION SYNDROME 1 (disorder) 		G 0.700 GeneticVariation CLINVAR Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients. 23929686 2013
dbSNP: rs875989800
rs875989800
Entrez Id: 6598
Gene Symbol: SMARCB1
SMARCB1
CUI: C1836327
Disease:
RHABDOID TUMOR PREDISPOSITION SYNDROME 1 (disorder) 		G 0.700 GeneticVariation CLINVAR Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome. 22426308 2012
dbSNP: rs1555877276
rs1555877276
Entrez Id: 6598
Gene Symbol: SMARCB1
SMARCB1
CUI: C1836327
Disease:
RHABDOID TUMOR PREDISPOSITION SYNDROME 1 (disorder) 		C 0.700 CausalMutation CLINVAR Frequent hSNF5/INI1 germline mutations in patients with rhabdoid tumor. 21208904 2011
dbSNP: rs1555877286
rs1555877286
Entrez Id: 6598
Gene Symbol: SMARCB1
SMARCB1
CUI: C1836327
Disease:
RHABDOID TUMOR PREDISPOSITION SYNDROME 1 (disorder) 		T 0.700 CausalMutation CLINVAR Spectrum of SMARCB1/INI1 mutations in familial and sporadic rhabdoid tumors. 21108436 2011
dbSNP: rs1555877286
rs1555877286
Entrez Id: 6598
Gene Symbol: SMARCB1
SMARCB1
CUI: C1836327
Disease:
RHABDOID TUMOR PREDISPOSITION SYNDROME 1 (disorder) 		T 0.700 CausalMutation CLINVAR Frequent hSNF5/INI1 germline mutations in patients with rhabdoid tumor. 21208904 2011
dbSNP: rs1555877286
rs1555877286
Entrez Id: 6598
Gene Symbol: SMARCB1
SMARCB1
CUI: C1836327
Disease:
RHABDOID TUMOR PREDISPOSITION SYNDROME 1 (disorder) 		T 0.700 CausalMutation CLINVAR Clinicopathologic comparison of familial versus sporadic atypical teratoid/rhabdoid tumors (AT/RT) of the central nervous system. 20848638 2011
dbSNP: rs1568937087
rs1568937087
Entrez Id: 6598
Gene Symbol: SMARCB1
SMARCB1
CUI: C1836327
Disease:
RHABDOID TUMOR PREDISPOSITION SYNDROME 1 (disorder) 		G 0.700 GeneticVariation CLINVAR Frequent hSNF5/INI1 germline mutations in patients with rhabdoid tumor. 21208904 2011
dbSNP: rs1568937197
rs1568937197
Entrez Id: 6598
Gene Symbol: SMARCB1
SMARCB1
CUI: C1836327
Disease:
RHABDOID TUMOR PREDISPOSITION SYNDROME 1 (disorder) 		A 0.700 CausalMutation CLINVAR Frequent hSNF5/INI1 germline mutations in patients with rhabdoid tumor. 21208904 2011
dbSNP: rs1568937197
rs1568937197
Entrez Id: 6598
Gene Symbol: SMARCB1
SMARCB1
CUI: C1836327
Disease:
RHABDOID TUMOR PREDISPOSITION SYNDROME 1 (disorder) 		A 0.700 CausalMutation CLINVAR Alterations in the SMARCB1 (INI1) tumor suppressor gene in familial schwannomatosis. 18647326 2008
dbSNP: rs1555877276
rs1555877276
Entrez Id: 6598
Gene Symbol: SMARCB1
SMARCB1
CUI: C1836327
Disease:
RHABDOID TUMOR PREDISPOSITION SYNDROME 1 (disorder) 		C 0.700 CausalMutation CLINVAR Constitutional mutations of the hSNF5/INI1 gene predispose to a variety of cancers. 10521299 1999
dbSNP: rs1555877286
rs1555877286
Entrez Id: 6598
Gene Symbol: SMARCB1
SMARCB1
CUI: C1836327
Disease:
RHABDOID TUMOR PREDISPOSITION SYNDROME 1 (disorder) 		T 0.700 CausalMutation CLINVAR Constitutional mutations of the hSNF5/INI1 gene predispose to a variety of cancers. 10521299 1999
dbSNP: rs1568937087
rs1568937087
Entrez Id: 6598
Gene Symbol: SMARCB1
SMARCB1
CUI: C1836327
Disease:
RHABDOID TUMOR PREDISPOSITION SYNDROME 1 (disorder) 		G 0.700 GeneticVariation CLINVAR Constitutional mutations of the hSNF5/INI1 gene predispose to a variety of cancers. 10521299 1999
dbSNP: rs1568937197
rs1568937197
Entrez Id: 6598
Gene Symbol: SMARCB1
SMARCB1
CUI: C1836327
Disease:
RHABDOID TUMOR PREDISPOSITION SYNDROME 1 (disorder) 		A 0.700 CausalMutation CLINVAR Constitutional mutations of the hSNF5/INI1 gene predispose to a variety of cancers. 10521299 1999
dbSNP: rs1060503015
rs1060503015
Entrez Id: 6598
Gene Symbol: SMARCB1
SMARCB1
CUI: C1836327
Disease:
RHABDOID TUMOR PREDISPOSITION SYNDROME 1 (disorder) 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1060503016
rs1060503016
Entrez Id: 6598
Gene Symbol: SMARCB1
SMARCB1
CUI: C1836327
Disease:
RHABDOID TUMOR PREDISPOSITION SYNDROME 1 (disorder) 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1060503017
rs1060503017
Entrez Id: 6598
Gene Symbol: SMARCB1
SMARCB1
CUI: C1836327
Disease:
RHABDOID TUMOR PREDISPOSITION SYNDROME 1 (disorder) 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1555875892
rs1555875892
Entrez Id: 6598
Gene Symbol: SMARCB1
SMARCB1
CUI: C1836327
Disease:
RHABDOID TUMOR PREDISPOSITION SYNDROME 1 (disorder) 		GAGAT 0.700 CausalMutation CLINVAR
dbSNP: rs1555875917
rs1555875917
Entrez Id: 6598
Gene Symbol: SMARCB1
SMARCB1
CUI: C1836327
Disease:
RHABDOID TUMOR PREDISPOSITION SYNDROME 1 (disorder) 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1555881567
rs1555881567
Entrez Id: 6598
Gene Symbol: SMARCB1
SMARCB1
CUI: C1836327
Disease:
RHABDOID TUMOR PREDISPOSITION SYNDROME 1 (disorder) 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1555881586
rs1555881586
Entrez Id: 6598
Gene Symbol: SMARCB1
SMARCB1
CUI: C1836327
Disease:
RHABDOID TUMOR PREDISPOSITION SYNDROME 1 (disorder) 		A 0.700 CausalMutation CLINVAR
dbSNP: rs587776678
rs587776678
Entrez Id: 6598
Gene Symbol: SMARCB1
SMARCB1
CUI: C1836327
Disease:
RHABDOID TUMOR PREDISPOSITION SYNDROME 1 (disorder) 		T 0.700 CausalMutation CLINVAR
dbSNP: rs878854600
rs878854600
Entrez Id: 6598;91319
Gene Symbol: SMARCB1;DERL3
SMARCB1;DERL3
CUI: C1836327
Disease:
RHABDOID TUMOR PREDISPOSITION SYNDROME 1 (disorder) 		T 0.700 CausalMutation CLINVAR