Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137853293
rs137853293
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary
T 0.700 CausalMutation CLINVAR Genetic screening in patients with Retinoblastoma in Israel. 25754945 2015
dbSNP: rs137853293
rs137853293
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary
T 0.700 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
dbSNP: rs137853293
rs137853293
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary
T 0.700 CausalMutation CLINVAR Screening of RB1 gene mutations in Chinese patients with retinoblastoma and preliminary exploration of genotype-phenotype correlations. 24791139 2014
dbSNP: rs137853293
rs137853293
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary
T 0.700 CausalMutation CLINVAR Phenotypic variability of retinocytomas: preregression and postregression growth patterns. 22328814 2012
dbSNP: rs137853293
rs137853293
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary
T 0.700 CausalMutation CLINVAR RB1 gene mutations in Iranian patients with retinoblastoma: report of four novel mutations. 21763628 2011
dbSNP: rs137853293
rs137853293
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary
T 0.700 CausalMutation CLINVAR Genotype-phenotype correlations in hereditary familial retinoblastoma. 17096365 2007
dbSNP: rs137853293
rs137853293
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary
T 0.700 CausalMutation CLINVAR Identification of 26 new constitutional RB1 gene mutations in Spanish, Colombian, and Cuban retinoblastoma patients. 15605413 2005
dbSNP: rs137853293
rs137853293
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary
T 0.700 CausalMutation CLINVAR Oncogenic point mutations in the human retinoblastoma gene: their application to genetic counseling. 2594029 1989