Variant: rs1131690843 

    present in Gene: RB1
    present in Chromosome: 13
    Position on Chromosome: 48342714
    Alleles of this Variant: G/A;C

rs1131690843 in RB1 gene and Neoplastic Syndromes, Hereditary PMID 15884040 2005 Sensitive multistep clinical molecular screening of 180 unrelated individuals with retinoblastoma detects 36 novel mutations in the RB1 gene.

PMID 25928201 2015 Targeted next generation sequencing of RB1 gene for the molecular diagnosis of Retinoblastoma.