Gene: SMARCA4 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs972341316
rs972341316
SMARCA4
T 0.700 CausalMutation CLINVAR Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type. 24658002

2014
dbSNP: rs1555771571
rs1555771571
SMARCA4
T 0.700 CausalMutation CLINVAR Nonsense mutation and inactivation of SMARCA4 (BRG1) in an atypical teratoidrhabdoid tumor showing retained SMARCB1 (INI1) expression. 21566516

2011
dbSNP: rs1555763642
rs1555763642
SMARCA4
T 0.700 CausalMutation CLINVAR

dbSNP: rs1555787120
rs1555787120
SMARCA4
C 0.700 CausalMutation CLINVAR