Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1131690852
rs1131690852
AC 0.700 CausalMutation CLINVAR Spectrum of germ-line RB1 gene mutations in Malaysian patients with retinoblastoma. 26539030

2015

dbSNP: rs1131690852
rs1131690852
AC 0.700 CausalMutation CLINVAR LOVD v.2.0: the next generation in gene variant databases. 21520333

2011

dbSNP: rs1131690852
rs1131690852
AC 0.700 CausalMutation CLINVAR Sensitive and efficient detection of RB1 gene mutations enhances care for families with retinoblastoma. 12541220

2003