Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2073389
rs2073389
Entrez Id: 6598
Gene Symbol: SMARCB1
SMARCB1
CUI: C0346647
Disease:
Malignant neoplasm of pancreas 		0.010 GeneticVariation BEFREE Intriguingly, gene-environmental interactions analysis consistently revealed the potential interactions of rs2073389 (P(add)  - FDR = 6.00 × 10(-4), P(mul)  - FDR = 1.50 × 10(-2)) and rs11085754 (P(add)  - FDR = 0.03) collaborating with smoking to modify the risk of PC. 24585446 2015
dbSNP: rs2073389
rs2073389
Entrez Id: 6598
Gene Symbol: SMARCB1
SMARCB1
CUI: C0235974
Disease:
Pancreatic carcinoma 		0.010 GeneticVariation BEFREE Intriguingly, gene-environmental interactions analysis consistently revealed the potential interactions of rs2073389 (P(add)  - FDR = 6.00 × 10(-4), P(mul)  - FDR = 1.50 × 10(-2)) and rs11085754 (P(add)  - FDR = 0.03) collaborating with smoking to modify the risk of PC. 24585446 2015
dbSNP: rs387906812
rs387906812
Entrez Id: 6598;91319
Gene Symbol: SMARCB1;DERL3
SMARCB1;DERL3
CUI: C0265338
Disease:
Coffin-Siris syndrome 		0.010 GeneticVariation BEFREE Subsequent whole exome sequencing in the cohort showed the same de novoSMARCB1 mutation (c.1130G>A), known to cause Coffin-Siris syndrome, in two patients. 25169651 2014
dbSNP: rs387906812
rs387906812
Entrez Id: 6598;91319
Gene Symbol: SMARCB1;DERL3
SMARCB1;DERL3
CUI: C0027809
Disease:
Neurilemmoma 		0.010 GeneticVariation BEFREE We found two spinal schwannomas with an identical somatic missense mutation in SMARCB1 exon 9: p.(Arg377His). 29230670 2018
dbSNP: rs398122368
rs398122368
Entrez Id: 6598
Gene Symbol: SMARCB1
SMARCB1
CUI: C3714756
Disease:
Intellectual Disability 		0.010 GeneticVariation BEFREE The p.Arg37His PV in the DNA-binding domain of SMARCB1 causes a distinctive syndrome, likely through a gain-of-function or dominant-negative effect, which is characterized by severe ID and hydrocephalus resulting from choroid plexus hyperplasia. 29907796 2019
dbSNP: rs398122368
rs398122368
Entrez Id: 6598
Gene Symbol: SMARCB1
SMARCB1
CUI: C0020255
Disease:
Hydrocephalus 		0.010 GeneticVariation BEFREE The p.Arg37His PV in the DNA-binding domain of SMARCB1 causes a distinctive syndrome, likely through a gain-of-function or dominant-negative effect, which is characterized by severe ID and hydrocephalus resulting from choroid plexus hyperplasia. 29907796 2019
dbSNP: rs74315513
rs74315513
Entrez Id: 6598
Gene Symbol: SMARCB1
SMARCB1
CUI: C0027809
Disease:
Neurilemmoma 		0.010 GeneticVariation BEFREE Immunohistochemistry with a SMARCB1 antibody revealed a mosaic staining pattern in schwannomas of the patients with the c.30delC and c.34C>T mutations. 24740647 2014
dbSNP: rs1057517825
rs1057517825
Entrez Id: 6598;91319
Gene Symbol: SMARCB1;DERL3
SMARCB1;DERL3
CUI: C3553248
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 15 		A 0.800 GeneticVariation CLINVAR 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: rs1057517825
rs1057517825
Entrez Id: 6598;91319
Gene Symbol: SMARCB1;DERL3
SMARCB1;DERL3
CUI: C3553248
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 15 		A 0.800 GeneticVariation CLINVAR Report of a patient with a constitutional missense mutation in SMARCB1, Coffin-Siris phenotype, and schwannomatosis. 26364901 2015
dbSNP: rs387906812
rs387906812
Entrez Id: 6598;91319
Gene Symbol: SMARCB1;DERL3
SMARCB1;DERL3
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 		A 0.800 CausalMutation CLINVAR
dbSNP: rs1057517825
rs1057517825
Entrez Id: 6598;91319
Gene Symbol: SMARCB1;DERL3
SMARCB1;DERL3
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 GeneticVariation CLINVAR 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: rs1057517825
rs1057517825
Entrez Id: 6598;91319
Gene Symbol: SMARCB1;DERL3
SMARCB1;DERL3
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients. 23929686 2013
dbSNP: rs1057517825
rs1057517825
Entrez Id: 6598;91319
Gene Symbol: SMARCB1;DERL3
SMARCB1;DERL3
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR 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: rs1057517825
rs1057517825
Entrez Id: 6598;91319
Gene Symbol: SMARCB1;DERL3
SMARCB1;DERL3
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR Coffin-Siris syndrome is a SWI/SNF complex disorder. 23815551 2014
dbSNP: rs1057517825
rs1057517825
Entrez Id: 6598;91319
Gene Symbol: SMARCB1;DERL3
SMARCB1;DERL3
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Coffin-Siris syndrome is a SWI/SNF complex disorder. 23815551 2014
dbSNP: rs1057517825
rs1057517825
Entrez Id: 6598;91319
Gene Symbol: SMARCB1;DERL3
SMARCB1;DERL3
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A. 25168959 2014
dbSNP: rs1057517825
rs1057517825
Entrez Id: 6598;91319
Gene Symbol: SMARCB1;DERL3
SMARCB1;DERL3
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 GeneticVariation CLINVAR Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients. 23929686 2013
dbSNP: rs1057517825
rs1057517825
Entrez Id: 6598;91319
Gene Symbol: SMARCB1;DERL3
SMARCB1;DERL3
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 GeneticVariation CLINVAR Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A. 25168959 2014
dbSNP: rs1057517825
rs1057517825
Entrez Id: 6598;91319
Gene Symbol: SMARCB1;DERL3
SMARCB1;DERL3
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 GeneticVariation CLINVAR Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome. 22426308 2012
dbSNP: rs1057517825
rs1057517825
Entrez Id: 6598;91319
Gene Symbol: SMARCB1;DERL3
SMARCB1;DERL3
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 GeneticVariation CLINVAR Coffin-Siris syndrome is a SWI/SNF complex disorder. 23815551 2014
dbSNP: rs1057517825
rs1057517825
Entrez Id: 6598;91319
Gene Symbol: SMARCB1;DERL3
SMARCB1;DERL3
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome. 22426308 2012
dbSNP: rs1057517825
rs1057517825
Entrez Id: 6598;91319
Gene Symbol: SMARCB1;DERL3
SMARCB1;DERL3
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A. 25168959 2014
dbSNP: rs1057517825
rs1057517825
Entrez Id: 6598;91319
Gene Symbol: SMARCB1;DERL3
SMARCB1;DERL3
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients. 23929686 2013
dbSNP: rs1057517825
rs1057517825
Entrez Id: 6598;91319
Gene Symbol: SMARCB1;DERL3
SMARCB1;DERL3
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome. 22426308 2012