Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137853296
rs137853296
RB1
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 GeneticVariation BEFREE Two patients with isolated bilateral retinoblastoma showed missense mutations, S567L and C712R, which have previously been reported in a patient with bilateral tumors and in a family with low penetrance, respectively. 10671068

1998