Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057517825
rs1057517825
Entrez Id: 6598;91319
Gene Symbol: SMARCB1;DERL3
SMARCB1;DERL3
CUI: C3553248
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 15
0.800 GeneticVariation UNIPROT
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: 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: 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: 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
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: rs267607072
rs267607072
Entrez Id: 6598
Gene Symbol: SMARCB1
SMARCB1
CUI: C4048809
Disease:
SCHWANNOMATOSIS 1
T 0.700 CausalMutation CLINVAR
dbSNP: rs387906811
rs387906811
Entrez Id: 6598
Gene Symbol: SMARCB1
SMARCB1
CUI: C4048809
Disease:
SCHWANNOMATOSIS 1
T 0.700 CausalMutation CLINVAR
dbSNP: rs587776677
rs587776677
Entrez Id: 6598
Gene Symbol: SMARCB1
SMARCB1
CUI: C2750405
Disease:
Malignant Rhabdoid Tumor, Somatic
G 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: rs587776679
rs587776679
Entrez Id: 6598
Gene Symbol: SMARCB1
SMARCB1
CUI: C4048809
Disease:
SCHWANNOMATOSIS 1
TACC 0.700 CausalMutation CLINVAR
dbSNP: rs74315513
rs74315513
Entrez Id: 6598
Gene Symbol: SMARCB1
SMARCB1
CUI: C4048809
Disease:
SCHWANNOMATOSIS 1
T 0.700 CausalMutation CLINVAR
dbSNP: rs797045989
rs797045989
Entrez Id: 6598
Gene Symbol: SMARCB1
SMARCB1
CUI: C3553248
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 15
G 0.700 GeneticVariation CLINVAR
dbSNP: rs875989800
rs875989800
Entrez Id: 6598
Gene Symbol: SMARCB1
SMARCB1
CUI: C1837397
Disease:
Severe global developmental delay
G 0.700 CausalMutation CLINVAR
dbSNP: rs875989800
rs875989800
Entrez Id: 6598
Gene Symbol: SMARCB1
SMARCB1
CUI: C1857042
Disease:
Sparse scalp hair
G 0.700 CausalMutation CLINVAR