RB1, RB transcriptional corepressor 1, 5925

N. diseases: 339; N. variants: 239
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs9568036
rs9568036
Entrez Id: 5925;10161
Gene Symbol: RB1;LPAR6
RB1;LPAR6
CUI: C0027651
Disease:
Neoplasms
0.010 GeneticVariation BEFREE We found a statistically significant difference between the polymorphism RB1-GG/rs9568036</span> and tumor chemoresistance (p<0.05). 28210099 2017
dbSNP: rs9568036
rs9568036
Entrez Id: 5925;10161
Gene Symbol: RB1;LPAR6
RB1;LPAR6
CUI: C0035335
Disease:
Retinoblastoma
0.010 GeneticVariation BEFREE The rs9568036 polymorphism in the <i>RB1</i> gene and the allelic variants can be associated with type of response to medical therapy and associated with male sex, while the allelic variant rs1042522 polymorphism in the <i>TP53</i> gene is associated with the unilateral presentation of the disease in a group of Mexican children with RB. 28210099 2017
dbSNP: rs427686
rs427686
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0035335
Disease:
Retinoblastoma
0.010 GeneticVariation BEFREE Our analysis showed that SNPs in cyclin D1:rs9344 and retinoblastoma:rs427686 genes showed a strong correlation with disease-free survival. 26459309 2016
dbSNP: rs4151510
rs4151510
Entrez Id: 5925;112268118
Gene Symbol: RB1;LOC112268118
RB1;LOC112268118
CUI: C0007131
Disease:
Non-Small Cell Lung Carcinoma
0.010 GeneticVariation BEFREE RB rs4151510 is an independent factor of the prognosis of NSCLC patients receiving platinum-taxane chemotherapy. 25684524 2015
dbSNP: rs3092904
rs3092904
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0220641
Disease:
Lip and Oral Cavity Carcinoma
0.010 GeneticVariation BEFREE A significant risk of oral cancer was also evident for individual polymorphisms of cyclin E (rs1406), cyclin H (rs3093816), cyclin D1-1 (rs647451), cyclin D2 (rs3217901) and Rb1-2 (rs3092904). 24947332 2014
dbSNP: rs3092904
rs3092904
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0153381
Disease:
Malignant neoplasm of mouth
0.010 GeneticVariation BEFREE A significant risk of oral cancer was also evident for individual polymorphisms of cyclin E (rs1406), cyclin H (rs3093816), cyclin D1-1 (rs647451), cyclin D2 (rs3217901) and Rb1-2 (rs3092904). 24947332 2014
dbSNP: rs1221157259
rs1221157259
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C1306460
Disease:
Primary malignant neoplasm of lung
0.010 GeneticVariation BEFREE However, the frequency of the HIF1A C1772T variant allele was significantly higher in lung cancer patients with TP53 LOH (P = 0.015). 21435097 2011
dbSNP: rs1221157259
rs1221157259
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.010 GeneticVariation BEFREE However, the frequency of the HIF1A C1772T variant allele was significantly higher in lung cancer patients with TP53 LOH (P = 0.015). 21435097 2011
dbSNP: rs1221157259
rs1221157259
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0684249
Disease:
Carcinoma of lung
0.010 GeneticVariation BEFREE However, the frequency of the HIF1A C1772T variant allele was significantly higher in lung cancer patients with TP53 LOH (P = 0.015). 21435097 2011
dbSNP: rs968643096
rs968643096
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.010 GeneticVariation BEFREE The roles of the polymorphic HIF-1α variants, C1772T (P582S) and G1790A (A588T), which are known to enhance transcriptional activity, were evaluated in lung cancers. 21435097 2011
dbSNP: rs198580
rs198580
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0678222
Disease:
Breast Carcinoma
0.010 GeneticVariation BEFREE Carrying the minor allele of these SNPs appears to confer a protective effect on breast cancer risk (odd ratio (OR) = 0.86 (0.76-0.96) for rs2854344 and OR = 0.80 (0.66-0.96) for rs198580). 16685266 2006
dbSNP: rs198580
rs198580
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.010 GeneticVariation BEFREE Carrying the minor allele of these SNPs appears to confer a protective effect on breast cancer risk (odd ratio (OR) = 0.86 (0.76-0.96) for rs2854344 and OR = 0.80 (0.66-0.96) for rs198580). 16685266 2006
dbSNP: rs2227311
rs2227311
Entrez Id: 5925;10161
Gene Symbol: RB1;LPAR6
RB1;LPAR6
CUI: C0678222
Disease:
Breast Carcinoma
0.010 GeneticVariation BEFREE However, intron 17 of RB1 contains the open reading frame for the P2RY5 gene, and rs4151620 is perfectly correlated with rs2227311, which is located in the 5'-untranslated region of P2RY5 and is predicted to affect P2RY5 transcription. rs2854344 has been reported previously to be associated with breast cancer risk. 17047088 2006
dbSNP: rs2227311
rs2227311
Entrez Id: 5925;10161
Gene Symbol: RB1;LPAR6
RB1;LPAR6
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.010 GeneticVariation BEFREE However, intron 17 of RB1 contains the open reading frame for the P2RY5 gene, and rs4151620 is perfectly correlated with rs2227311, which is located in the 5'-untranslated region of P2RY5 and is predicted to affect P2RY5 transcription. rs2854344 has been reported previously to be associated with breast cancer risk. 17047088 2006
dbSNP: rs4151620
rs4151620
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0678222
Disease:
Breast Carcinoma
0.010 GeneticVariation BEFREE However, intron 17 of RB1 contains the open reading frame for the P2RY5 gene, and rs4151620 is perfectly correlated with rs2227311, which is located in the 5'-untranslated region of P2RY5 and is predicted to affect P2RY5 transcription. rs2854344 has been reported previously to be associated with breast cancer risk. 17047088 2006
dbSNP: rs4151620
rs4151620
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.010 GeneticVariation BEFREE However, intron 17 of RB1 contains the open reading frame for the P2RY5 gene, and rs4151620 is perfectly correlated with rs2227311, which is located in the 5'-untranslated region of P2RY5 and is predicted to affect P2RY5 transcription. rs2854344 has been reported previously to be associated with breast cancer risk. 17047088 2006
dbSNP: rs137853296
rs137853296
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0027651
Disease:
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
dbSNP: rs2854344
rs2854344
Entrez Id: 5925;10161
Gene Symbol: RB1;LPAR6
RB1;LPAR6
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.020 GeneticVariation BEFREE Carrying the minor allele of these SNPs appears to confer a protective effect on breast cancer risk (odd ratio (OR) = 0.86 (0.76-0.96) for rs2854344 and OR = 0.80 (0.66-0.96) for rs198580). 16685266 2006
dbSNP: rs2854344
rs2854344
Entrez Id: 5925;10161
Gene Symbol: RB1;LPAR6
RB1;LPAR6
CUI: C0678222
Disease:
Breast Carcinoma
0.020 GeneticVariation BEFREE Carrying the minor allele of these SNPs appears to confer a protective effect on breast cancer risk (odd ratio (OR) = 0.86 (0.76-0.96) for rs2854344 and OR = 0.80 (0.66-0.96) for rs198580). 16685266 2006
dbSNP: rs2854344
rs2854344
Entrez Id: 5925;10161
Gene Symbol: RB1;LPAR6
RB1;LPAR6
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.020 GeneticVariation BEFREE However, intron 17 of RB1 contains the open reading frame for the P2RY5 gene, and rs4151620 is perfectly correlated with rs2227311, which is located in the 5'-untranslated region of P2RY5 and is predicted to affect P2RY5 transcription. rs2854344 has been reported previously to be associated with breast cancer risk. 17047088 2006
dbSNP: rs2854344
rs2854344
Entrez Id: 5925;10161
Gene Symbol: RB1;LPAR6
RB1;LPAR6
CUI: C0678222
Disease:
Breast Carcinoma
0.020 GeneticVariation BEFREE However, intron 17 of RB1 contains the open reading frame for the P2RY5 gene, and rs4151620 is perfectly correlated with rs2227311, which is located in the 5'-untranslated region of P2RY5 and is predicted to affect P2RY5 transcription. rs2854344 has been reported previously to be associated with breast cancer risk. 17047088 2006
dbSNP: rs121913302
rs121913302
Entrez Id: 5925;112268118
Gene Symbol: RB1;LOC112268118
RB1;LOC112268118
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary
T 0.700 CausalMutation CLINVAR Mutational analysis of the RB1 gene and the inheritance patterns of retinoblastoma in Jordan. 28803391 2018
dbSNP: rs398123331
rs398123331
Entrez Id: 5925;112268118
Gene Symbol: RB1;LOC112268118
RB1;LOC112268118
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary
T 0.700 CausalMutation CLINVAR Mutational analysis of the RB1 gene and the inheritance patterns of retinoblastoma in Jordan. 28803391 2018
dbSNP: rs1131690851
rs1131690851
Entrez Id: 5925;112268118
Gene Symbol: RB1;LOC112268118
RB1;LOC112268118
CUI: C0035335
Disease:
Retinoblastoma
A 0.700 CausalMutation CLINVAR De novo mutational profile in RB1 clarified using a mutation rate modeling algorithm. 28193182 2017
dbSNP: rs1131690881
rs1131690881
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0035335
Disease:
Retinoblastoma
T 0.700 CausalMutation CLINVAR De novo mutational profile in RB1 clarified using a mutation rate modeling algorithm. 28193182 2017