Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1239905891
rs1239905891
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.010 GeneticVariation BEFREE The purposes of this study were to analyse the genotype of TGF-beta1 at T29C and TGF-beta1 phenotype in breast tumours, and to evaluate their associations with IGFs and clinical characteristics of breast cancer. 18827819

2008

dbSNP: rs1239905891
rs1239905891
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.010 GeneticVariation BEFREE The purposes of this study were to analyse the genotype of TGF-beta1 at T29C and TGF-beta1 phenotype in breast tumours, and to evaluate their associations with IGFs and clinical characteristics of breast cancer. 18827819

2008

dbSNP: rs1239905891
rs1239905891
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.010 GeneticVariation BEFREE The purposes of this study were to analyse the genotype of TGF-beta1 at T29C and TGF-beta1 phenotype in breast tumours, and to evaluate their associations with IGFs and clinical characteristics of breast cancer. 18827819

2008

dbSNP: rs12423791
rs12423791
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 GeneticVariation BEFREE SNPs of the IGF1R (rs12423791), and IGF1 (rs2162679, rs5742612, rs35767) genes were significantly associated with tumor response to FOLFOX. 27144430

2016

dbSNP: rs12423791
rs12423791
CUI: C0271183
Disease: Severe myopia
Severe myopia
0.010 GeneticVariation BEFREE This meta-analysis shows that IGF-1 rs12423791 or rs6214 gene polymorphism is not associated with high myopia. 26076017

2015

dbSNP: rs12423791
rs12423791
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.010 GeneticVariation BEFREE When the sum of the risk genetic factors in each LD block (19-repeat allele, C allele of rs12423791, or C-T haplotype) was considered, patients with all the risk factors had significantly shorter cancer specific-survival than those with 0-2 risk factors (P = 0.0003). 23530598

2013

dbSNP: rs12423791
rs12423791
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.010 GeneticVariation BEFREE When the sum of the risk genetic factors in each LD block (19-repeat allele, C allele of rs12423791, or C-T haplotype) was considered, patients with all the risk factors had significantly shorter cancer specific-survival than those with 0-2 risk factors (P = 0.0003). 23530598

2013

dbSNP: rs12423791
rs12423791
CUI: C0027092
Disease: Myopia
Myopia
0.010 GeneticVariation BEFREE The polymorphism of rs12423791 in IGF-1 may be associated with extreme myopia in the Chinese population and should be investigated further. 22509095

2012

dbSNP: rs1520220
rs1520220
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.010 GeneticVariation BEFREE The analysis stratified by cancer type suggested that rs1520220 was not associated with susceptibility to breast cancer. 30111277

2018

dbSNP: rs1520220
rs1520220
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.010 GeneticVariation BEFREE The results of our meta-analysis demonstrate that the role of IGF1 rs1520220 in cancer susceptibility varies by ethnicity and cancer type and that rs1520220 increases cancer susceptibility in Asian populations. 30111277

2018

dbSNP: rs1520220
rs1520220
CUI: C0017661
Disease: IGA Glomerulonephritis
IGA Glomerulonephritis
0.010 GeneticVariation BEFREE However, the rs1520220 and rs2195239 variants were correlated with M1 and E1 in patients with IgAN (M0/M1: CC vs. CG+GG: OR = 1.62, P = 0.04; E0/E1: CC vs. CG+GG: OR = 1.95, P = 0.004; GG vs. GC+CC: OR = 1.90, P = 0.004, respectively). 29402846

2018

dbSNP: rs1520220
rs1520220
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.010 GeneticVariation BEFREE The results of our meta-analysis demonstrate that the role of IGF1 rs1520220 in cancer susceptibility varies by ethnicity and cancer type and that rs1520220 increases cancer susceptibility in Asian populations. 30111277

2018

dbSNP: rs1520220
rs1520220
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.010 GeneticVariation BEFREE The analysis stratified by cancer type suggested that rs1520220 was not associated with susceptibility to breast cancer. 30111277

2018

dbSNP: rs1520220
rs1520220
CUI: C0011847
Disease: Diabetes
Diabetes
0.010 GeneticVariation BEFREE In a multivariate Cox model (adjusted for age, gender, histology, pathological stage, adjuvant chemotherapy, and history of diabetes), two IGF-I polymorphisms, rs1520220 and rs2195239, were significantly associated with RFS (hazard ratio [HR] 0.60, 95% CI 0.40-0.91; and HR 0.60, 95% CI 0.41-0.89, respectively, in a per-allele model). 21690232

2012

dbSNP: rs1520220
rs1520220
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.010 GeneticVariation BEFREE In a multivariate Cox model (adjusted for age, gender, histology, pathological stage, adjuvant chemotherapy, and history of diabetes), two IGF-I polymorphisms, rs1520220 and rs2195239, were significantly associated with RFS (hazard ratio [HR] 0.60, 95% CI 0.40-0.91; and HR 0.60, 95% CI 0.41-0.89, respectively, in a per-allele model). 21690232

2012

dbSNP: rs1520220
rs1520220
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
0.010 GeneticVariation BEFREE We observed that the C allele in rs1520220 and the G allele in rs4764887 were significantly associated with stomach cancer risk in the per-allele model after adjusting for other risk factors (OR: 1.14 [95% CI: 1.00-1.30] and OR: 1.18 [95% CI: 1.02-1.36], respectively). 21854509

2011

dbSNP: rs1520220
rs1520220
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma
0.010 GeneticVariation BEFREE We observed that the C allele in rs1520220 and the G allele in rs4764887 were significantly associated with stomach cancer risk in the per-allele model after adjusting for other risk factors (OR: 1.14 [95% CI: 1.00-1.30] and OR: 1.18 [95% CI: 1.02-1.36], respectively). 21854509

2011

dbSNP: rs2072592
rs2072592
CUI: C0007785
Disease: Cerebral Infarction
Cerebral Infarction
0.010 GeneticVariation BEFREE The logistic regression analysis revealed that the GG + AG variant of rs2162679 (P = 0.047), the AA + GA variant of rs2072592 (P = 0.005) and the CC + TC variant of rs6218 (P = 0.015) exhibited a protective effect for CI in the total subject group. 23121326

2012

dbSNP: rs2072592
rs2072592
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
0.010 GeneticVariation BEFREE The haplotype-based case-control study revealed that the frequency of the A-T-G-G haplotype for rs2162679-rs7956547-rs2072592-rs978458 was significantly higher in the MI group (47.3%) as compared to the non-MI group (41.4%) (p=0.037, odds ratio=1.270). 21039458

2010

dbSNP: rs2162679
rs2162679
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas
0.010 GeneticVariation BEFREE No significant relationship was found between rs2195239 and breast or pancreatic cancer risk. rs2162679 reduces the overall cancer risk in allele, homozygote, dominant, and recessive models, as well as reducing cancer risk in Asian populations in allele, homozygote, and recessive models. 30654740

2019

dbSNP: rs2162679
rs2162679
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.010 GeneticVariation BEFREE No significant relationship was found between rs2195239 and breast or pancreatic cancer risk. rs2162679 reduces the overall cancer risk in allele, homozygote, dominant, and recessive models, as well as reducing cancer risk in Asian populations in allele, homozygote, and recessive models. 30654740

2019

dbSNP: rs2162679
rs2162679
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.010 GeneticVariation BEFREE IGF1 rs2195239 and rs2162679 were associated with overall cancer risk based on present studies. 30654740

2019

dbSNP: rs2162679
rs2162679
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.010 GeneticVariation BEFREE IGF1 rs2195239 and rs2162679 were associated with overall cancer risk based on present studies. 30654740

2019

dbSNP: rs2162679
rs2162679
CUI: C0007785
Disease: Cerebral Infarction
Cerebral Infarction
0.010 GeneticVariation BEFREE The logistic regression analysis revealed that the GG + AG variant of rs2162679 (P = 0.047), the AA + GA variant of rs2072592 (P = 0.005) and the CC + TC variant of rs6218 (P = 0.015) exhibited a protective effect for CI in the total subject group. 23121326

2012

dbSNP: rs2162679
rs2162679
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
0.010 GeneticVariation BEFREE The frequency of the A-T-G-T haplotype for rs2162679-rs7956547-rs978458-rs6218 was also significantly higher in the MI group (47.3%) as compared to the non-MI group (41.3%) (p=0.033, odds ratio=1.276). 21039458

2010