Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1568462513
rs1568462513
SMARCA4
CUI: C2750074
Disease: Rhabdoid Tumor Predisposition Syndrome 2
Rhabdoid Tumor Predisposition Syndrome 2 		G 0.700 GeneticVariation CLINVAR Small cell carcinoma of the ovary, hypercalcemic type, displays frequent inactivating germline and somatic mutations in SMARCA4. 24658001

2014
dbSNP: rs1568462513
rs1568462513
SMARCA4
CUI: C2750074
Disease: Rhabdoid Tumor Predisposition Syndrome 2
Rhabdoid Tumor Predisposition Syndrome 2 		G 0.700 GeneticVariation CLINVAR Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type. 24658002

2014