Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs398122368
rs398122368
Entrez Id: 6598
Gene Symbol: SMARCB1
SMARCB1
CUI: C3553248
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 15 		0.800 GeneticVariation UNIPROT Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability. 22726846 2012
dbSNP: rs398122368
rs398122368
Entrez Id: 6598
Gene Symbol: SMARCB1
SMARCB1
CUI: C3553248
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 15 		0.800 GeneticVariation UNIPROT A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling. 23906836 2013
dbSNP: rs398122368
rs398122368
Entrez Id: 6598
Gene Symbol: SMARCB1
SMARCB1
CUI: C3553248
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 15 		A 0.800 CausalMutation CLINVAR
dbSNP: rs398122368
rs398122368
Entrez Id: 6598
Gene Symbol: SMARCB1
SMARCB1
CUI: C3553248
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 15 		0.800 GeneticVariation UNIPROT Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome. 22426308 2012
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: C1335929
Disease:
Schwannomatosis 		A 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: C1335929
Disease:
Schwannomatosis 		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: rs121434496
rs121434496
Entrez Id: 6598
Gene Symbol: SMARCB1
SMARCB1
CUI: C4016745
Disease:
SCHWANNOMATOSIS 1, SOMATIC 		T 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: rs1555875915
rs1555875915
Entrez Id: 6598
Gene Symbol: SMARCB1
SMARCB1
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Clinical and molecular features in patients with atypical teratoid rhabdoid tumor or malignant rhabdoid tumor. 19902524 2010
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: rs1555876140
rs1555876140
Entrez Id: 6598
Gene Symbol: SMARCB1
SMARCB1
CUI: C0085136
Disease:
Central Nervous System Neoplasms 		GC 0.700 CausalMutation CLINVAR
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: 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 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 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 SMARCB1 mutations in schwannomatosis and genotype correlations with rhabdoid tumors. 24933152 2014
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 Clinicopathologic comparison of familial versus sporadic atypical teratoid/rhabdoid tumors (AT/RT) of the central nervous system. 20848638 2011
dbSNP: rs1555877287
rs1555877287
Entrez Id: 6598
Gene Symbol: SMARCB1
SMARCB1
CUI: C3553248
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 15 		A 0.700 GeneticVariation 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: rs1555881567
rs1555881567
Entrez Id: 6598
Gene Symbol: SMARCB1
SMARCB1
CUI: C3553248
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 15 		G 0.700 GeneticVariation CLINVAR