Gene: RB1 ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1060503079
rs1060503079
RB1 ; LOC112268118
A 0.700 CausalMutation CLINVAR Sensitive and efficient detection of RB1 gene mutations enhances care for families with retinoblastoma. 12541220

2003
dbSNP: rs1131690842
rs1131690842
RB1
C 0.700 CausalMutation CLINVAR

dbSNP: rs1131690843
rs1131690843
RB1
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1131690843
rs1131690843
RB1
A 0.700 GeneticVariation CLINVAR Targeted next generation sequencing of RB1 gene for the molecular diagnosis of Retinoblastoma. 25928201

2015
dbSNP: rs1131690843
rs1131690843
RB1
A 0.700 GeneticVariation CLINVAR Sensitive multistep clinical molecular screening of 180 unrelated individuals with retinoblastoma detects 36 novel mutations in the RB1 gene. 15884040

2005
dbSNP: rs1131690844
rs1131690844
RB1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1131690845
rs1131690845
RB1 ; RB1-DT
GG 0.700 CausalMutation CLINVAR

dbSNP: rs1131690846
rs1131690846
RB1 ; LOC112268118
T 0.700 CausalMutation CLINVAR New RB1 oncogenic mutations and intronic polymorphisms in Serbian retinoblastoma patients: genetic counseling implications. 16972022

2006
dbSNP: rs1131690846
rs1131690846
RB1 ; LOC112268118
T 0.700 CausalMutation CLINVAR Identification of 26 new constitutional RB1 gene mutations in Spanish, Colombian, and Cuban retinoblastoma patients. 15605413

2005
dbSNP: rs1131690846
rs1131690846
RB1 ; LOC112268118
T 0.700 CausalMutation CLINVAR Sensitive and efficient detection of RB1 gene mutations enhances care for families with retinoblastoma. 12541220

2003
dbSNP: rs1131690847
rs1131690847
RB1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1131690849
rs1131690849
RB1
G 0.700 CausalMutation CLINVAR

dbSNP: rs1131690851
rs1131690851
RB1 ; LOC112268118
A 0.700 CausalMutation CLINVAR

dbSNP: rs1131690852
rs1131690852
RB1 ; RB1-DT
AC 0.700 CausalMutation CLINVAR

dbSNP: rs1131690855
rs1131690855
RB1 ; RB1-DT
T 0.700 CausalMutation CLINVAR

dbSNP: rs1131690856
rs1131690856
RB1 ; LOC112268118
G 0.700 CausalMutation CLINVAR

dbSNP: rs1131690857
rs1131690857
RB1
G 0.700 CausalMutation CLINVAR

dbSNP: rs1131690858
rs1131690858
RB1
G 0.700 CausalMutation CLINVAR Genetic screening in patients with Retinoblastoma in Israel. 25754945

2015
dbSNP: rs1131690858
rs1131690858
RB1
G 0.700 CausalMutation CLINVAR Germline mutations in the RB1 gene in patients with hereditary retinoblastoma. 8605116

1995
dbSNP: rs1131690858
rs1131690858
RB1
G 0.700 CausalMutation CLINVAR Molecular mechanisms of oncogenic mutations in tumors from patients with bilateral and unilateral retinoblastoma. 8346255

1993
dbSNP: rs1131690858
rs1131690858
RB1
G 0.700 CausalMutation CLINVAR Evaluation of in silico splice tools for decision-making in molecular diagnosis. 18449911

2008
dbSNP: rs1131690858
rs1131690858
RB1
G 0.700 CausalMutation CLINVAR Spectrum of small length germline mutations in the RB1 gene. 7881418

1994
dbSNP: rs1131690858
rs1131690858
RB1
G 0.700 CausalMutation CLINVAR Sensitive and efficient detection of RB1 gene mutations enhances care for families with retinoblastoma. 12541220

2003
dbSNP: rs1131690859
rs1131690859
RB1 ; LOC112268118
A 0.700 CausalMutation CLINVAR Evaluation of in silico splice tools for decision-making in molecular diagnosis. 18449911

2008
dbSNP: rs1131690859
rs1131690859
RB1 ; LOC112268118
A 0.700 CausalMutation CLINVAR Spectrum of germline RB1 gene mutations in Spanish retinoblastoma patients: Phenotypic and molecular epidemiological implications. 11317357

2001