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: 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: 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