Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs10935070
rs10935070
Entrez Id: 11073
Gene Symbol: TOPBP1
TOPBP1
CUI: C0001948
Disease:
Alcohol consumption
0.700 GeneticVariation GWASDB Genome-wide association study identifies two loci strongly affecting transferrin glycosylation. 21665994 2011
dbSNP: rs115160714
rs115160714
Entrez Id: 11073
Gene Symbol: TOPBP1
TOPBP1
CUI: C0027651
Disease:
Neoplasms
0.030 GeneticVariation BEFREE The presence of risk allele at rs115160714 TopBP1 determined a higher incidence of nodal metastases (OR = 7.98, 95 % CI: 3.94-16.00, p = 0.001) and higher tumor grade (OR = 6.48, 95 % CI: 0.86-48.01, p = 0.03). 26503213 2016
dbSNP: rs115160714
rs115160714
Entrez Id: 11073
Gene Symbol: TOPBP1
TOPBP1
CUI: C0027651
Disease:
Neoplasms
0.030 GeneticVariation BEFREE There was a significant association between the rs115160714 and tumor grade and FIGO classification. 24346708 2014
dbSNP: rs115160714
rs115160714
Entrez Id: 11073
Gene Symbol: TOPBP1
TOPBP1
CUI: C0027651
Disease:
Neoplasms
0.030 GeneticVariation BEFREE There was a significant association between the rs115160714 and tumor grade and stage. 23277395 2013
dbSNP: rs115160714
rs115160714
Entrez Id: 11073
Gene Symbol: TOPBP1
TOPBP1
CUI: C2939419
Disease:
Secondary Neoplasm
0.010 GeneticVariation BEFREE The presence of risk allele at rs115160714 TopBP1 determined a higher incidence of nodal metastases (OR = 7.98, 95 % CI: 3.94-16.00, p = 0.001) and higher tumor grade (OR = 6.48, 95 % CI: 0.86-48.01, p = 0.03). 26503213 2016
dbSNP: rs115160714
rs115160714
Entrez Id: 11073
Gene Symbol: TOPBP1
TOPBP1
CUI: C0027627
Disease:
Neoplasm Metastasis
0.010 GeneticVariation BEFREE The presence of risk allele at rs115160714 TopBP1 determined a higher incidence of nodal metastases (OR = 7.98, 95 % CI: 3.94-16.00, p = 0.001) and higher tumor grade (OR = 6.48, 95 % CI: 0.86-48.01, p = 0.03). 26503213 2016
dbSNP: rs115160714
rs115160714
Entrez Id: 11073
Gene Symbol: TOPBP1
TOPBP1
CUI: C0007107
Disease:
Malignant neoplasm of larynx
0.010 GeneticVariation BEFREE The results of this study suggest that rs115160714 TopBP1 may be a genetic marker of etiology and progression in laryngeal cancer. 26503213 2016
dbSNP: rs115160714
rs115160714
Entrez Id: 11073
Gene Symbol: TOPBP1
TOPBP1
CUI: C0595989
Disease:
Carcinoma of larynx
0.010 GeneticVariation BEFREE The results of this study suggest that rs115160714 TopBP1 may be a genetic marker of etiology and progression in laryngeal cancer. 26503213 2016
dbSNP: rs112843513
rs112843513
Entrez Id: 11073
Gene Symbol: TOPBP1
TOPBP1
CUI: C0007103
Disease:
Malignant neoplasm of endometrium
0.010 GeneticVariation BEFREE We examined the association between five single nucleotide polymorphisms (rs185903567, rs116645643, rs115160714, rs116195487, and rs112843513) located in the 3'UTR region of the TopBP1 gene and endometrial cancer risk as well as allele-specific gene expression. 24346708 2014
dbSNP: rs112843513
rs112843513
Entrez Id: 11073
Gene Symbol: TOPBP1
TOPBP1
CUI: C0476089
Disease:
Endometrial Carcinoma
0.010 GeneticVariation BEFREE We examined the association between five single nucleotide polymorphisms (rs185903567, rs116645643, rs115160714, rs116195487, and rs112843513) located in the 3'UTR region of the TopBP1 gene and endometrial cancer risk as well as allele-specific gene expression. 24346708 2014
dbSNP: rs115160714
rs115160714
Entrez Id: 11073
Gene Symbol: TOPBP1
TOPBP1
CUI: C0476089
Disease:
Endometrial Carcinoma
0.010 GeneticVariation BEFREE Only one SNP (rs115160714) showed an association with endometrial cancer. 24346708 2014
dbSNP: rs115160714
rs115160714
Entrez Id: 11073
Gene Symbol: TOPBP1
TOPBP1
CUI: C0007103
Disease:
Malignant neoplasm of endometrium
0.010 GeneticVariation BEFREE Only one SNP (rs115160714) showed an association with endometrial cancer. 24346708 2014
dbSNP: rs112843513
rs112843513
Entrez Id: 11073
Gene Symbol: TOPBP1
TOPBP1
CUI: C0678222
Disease:
Breast Carcinoma
0.010 GeneticVariation BEFREE The aim of this study was to examine the association between five polymorphisms (rs185903567, rs116645643, rs115160714, rs116195487, and rs112843513) located in the 3'UTR region of the TopBP1 gene and breast cancer risk as well as allele-specific gene expression. 23277395 2013
dbSNP: rs112843513
rs112843513
Entrez Id: 11073
Gene Symbol: TOPBP1
TOPBP1
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.010 GeneticVariation BEFREE The aim of this study was to examine the association between five polymorphisms (rs185903567, rs116645643, rs115160714, rs116195487, and rs112843513) located in the 3'UTR region of the TopBP1 gene and breast cancer risk as well as allele-specific gene expression. 23277395 2013
dbSNP: rs115160714
rs115160714
Entrez Id: 11073
Gene Symbol: TOPBP1
TOPBP1
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.010 GeneticVariation BEFREE Only one SNP (rs115160714) showed an association with breast cancer. 23277395 2013
dbSNP: rs115160714
rs115160714
Entrez Id: 11073
Gene Symbol: TOPBP1
TOPBP1
CUI: C0678222
Disease:
Breast Carcinoma
0.010 GeneticVariation BEFREE Only one SNP (rs115160714) showed an association with breast cancer. 23277395 2013
dbSNP: rs1444601
rs1444601
Entrez Id: 11073
Gene Symbol: TOPBP1
TOPBP1
CUI: C0009402
Disease:
Colorectal Carcinoma
0.010 GeneticVariation BEFREE However, rs1444601 (TOPBP1) and rs13088006 (CDV3) in region 3q22 showed interesting results and may have an effect on CRC risk. 21811255 2011
dbSNP: rs55633281
rs55633281
Entrez Id: 11073
Gene Symbol: TOPBP1
TOPBP1
CUI: C1333600
Disease:
Hereditary Malignant Neoplasm
0.010 GeneticVariation BEFREE A novel heterozygous Arg309Cys variant was observed at elevated frequency in the familial cancer cases compared to healthy controls (15.2% versus 7.0%; P=0.002). 16930991 2006