Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2279744
rs2279744
0.020 GeneticVariation BEFREE In conclusion, the present meta-analysis indicates that MDM2 rs1690916 and rs2279744 cannot be considered as genetic risk factors for OS susceptibility in the different populations. 27438225

2016

dbSNP: rs4150441
rs4150441
0.020 GeneticVariation BEFREE Multivariate logistic regression analysis did not reveal significant associations between ERCC2 rs13181/rs1799793 or ERCC3 rs4150441/ rs4150506 gene polymorphisms and the development of osteosarcoma in codominant, dominant, and recessive models. 27051024

2016

dbSNP: rs1128503
rs1128503
0.020 GeneticVariation BEFREE We conclude that ABCC3 rs4148416 polymorphism was significantly associated with poor osteosarcoma response and ABCB1 rs1128503 polymorphism was significantly associated with good osteosarcoma response in Caucasian population rather than Asian population. 26107220

2015

dbSNP: rs17655
rs17655
0.020 GeneticVariation BEFREE We conducted a perspective study to investigate the role of ERCC1 (rs11615), ERCC2 (rs13181 and rs1799793), ERCC4 (rs1800067), and ERCC5 (rs17655) in NER pathway in the prognosis of osteosarcoma patients. 26436406

2015

dbSNP: rs1800470
rs1800470
0.020 GeneticVariation BEFREE The morbidity and metastasis of osteosarcoma are relevant to TGF-β1 gene 29 T > C single nucleotide polymorphism. 25663491

2015

dbSNP: rs2298881
rs2298881
0.020 GeneticVariation BEFREE In conclusion, our findings suggest that ERCC1 rs11615 and ERCC1 rs2298881 genetic polymorphisms are significantly associated with poor response to chemotherapy and unfavourable survival of osteosarcoma. 26339355

2015

dbSNP: rs2298881
rs2298881
0.020 GeneticVariation BEFREE In summary, our results suggested that the ERCC1 rs11615 and rs2298881 polymorphisms play important roles in the response to chemotherapy mediated by the DNA repair pathway and in the clinical outcome of osteosarcoma. 26345951

2015

dbSNP: rs4148416
rs4148416
0.020 GeneticVariation BEFREE We conclude that ABCC3 rs4148416 polymorphism was significantly associated with poor osteosarcoma response and ABCB1 rs1128503 polymorphism was significantly associated with good osteosarcoma response in Caucasian population rather than Asian population. 26107220

2015

dbSNP: rs454006
rs454006
0.020 GeneticVariation BEFREE Our results suggested that the T/C variant of rs454006 located in the intron 3 region of PRKCG gene was significantly associated with an increased risk of osteosarcoma (CC vs. TT, OR = 1.91; 95 % CI 1.29-2.85; P = 0.001; CC vs. TT+TC, OR = 2.14, 95 % CI = 1.48-3.09, P = 0.001; C vs. T, OR = 1.32, 95 % CI = 1.08-1.62, P = 0.008). 25663494

2015

dbSNP: rs7034162
rs7034162
0.020 GeneticVariation BEFREE We identified an SNP, rs7034162, in NFIB significantly associated with metastasis in European osteosarcoma cases, as well as in cases of African and Brazilian ancestry (meta-analysis of all cases: P = 1.2 × 10(-9); OR, 2.43; 95% confidence interval, 1.83-3.24). 26084801

2015

dbSNP: rs820196
rs820196
0.020 GeneticVariation BEFREE We selected rs820196 in the RECQL5 gene and genotyped 185 patients with osteosarcoma and 201 age- and gender-matched non-cancer controls. 25867335

2015

dbSNP: rs1690916
rs1690916
0.020 GeneticVariation BEFREE MDM2 rs1690916 polymorphism was also associated with a risk of osteosarcoma (OR = 0.60, 95 % CI 0.46-0.77, P < 0.001). 24122202

2014

dbSNP: rs1800541
rs1800541
0.020 GeneticVariation BEFREE The rs1800541-rs2070699 haplotypes TG and GT were respectively associated with increased (P = 0.012; adjusted OR, 1.82; 95% CI, 1.10-5.65) and reduced (P = 0.009; adjusted OR, 0.25; 95% CI, 0.14-0.84) risk of chemoresistant OS. 24123836

2014

dbSNP: rs1906953
rs1906953
0.020 GeneticVariation BEFREE Further analysis showed the association between rs1906953 and OS was independent of gender and age. 24984297

2014

dbSNP: rs2070699
rs2070699
0.020 GeneticVariation BEFREE The rs1800541-rs2070699 haplotypes TG and GT were respectively associated with increased (P = 0.012; adjusted OR, 1.82; 95% CI, 1.10-5.65) and reduced (P = 0.009; adjusted OR, 0.25; 95% CI, 0.14-0.84) risk of chemoresistant OS. 24123836

2014

dbSNP: rs2279744
rs2279744
0.020 GeneticVariation BEFREE However, MDM2 rs2279744 polymorphism was not associated with the overall survival of patients with osteosarcoma (codominant model, HR = 1.01, 95 % CI 0.53-1.91, P = 0.98; recessive model, HR = 1.07, 95 % CI 0.54-2.11, P = 0.85; dominant model, HR = 1.04, 95 % CI 0.65-1.66, P = 0.87). 24122202

2014

dbSNP: rs4148416
rs4148416
0.020 GeneticVariation BEFREE In conclusion, variants of ABCB1 rs128503, ABCC3 rs4148416, and GSTP1 rs1695 are associated with response to chemotherapy and PFS and OS of osteosarcoma patients; these gene polymorphisms could help in the design of individualized therapy. 24996541

2014

dbSNP: rs454006
rs454006
0.020 GeneticVariation BEFREE The rs454006 polymorphism of the PRKCG gene correlated to osteosarcoma susceptibility and might increase the risk of osteosarcoma. 25252845

2014

dbSNP: rs820196
rs820196
0.020 GeneticVariation BEFREE We also found that the C allele of rs820196 (OR = 1.492, 95% CI 1.138 ∼ 1.951; P = 0.004) and A allele of rs4789223 (OR = 1.767, 95% CI: 1.354 ∼ 2.301; P < 0.001) were common in the osteosarcoma patients than those in the control subjects, respectively. 24287950

2014

dbSNP: rs1047768
rs1047768
0.020 GeneticVariation BEFREE Our findings showed polymorphisms in ERCC5 rs1047768 and MMS19L rs29001322 to be associated with clinical outcome of osteosarcoma patients undergoing chemotherapy. 23679317

2013

dbSNP: rs1800541
rs1800541
0.020 GeneticVariation BEFREE The mRNA and the secreted protein levels of ET-1 in primary OS cell cultures (POCCs) established from surgically resected primary OS in the rs1800541 TT homozygotes were higher than those from the TG heterozygotes (P<0.05), who in turn showed higher ET-1 mRNA and secreted ET-1 levels than the GG homozygotes (P<0.05). 24069190

2013

dbSNP: rs2070699
rs2070699
0.020 GeneticVariation BEFREE The G allele at rs1800541 was found associated with reduced risk of pulmonary metastatic OS after adjustment for body mass index, systolic blood pressure, diastolic blood pressure and the plasma ET-1 level (P=10(-4); adjusted OR, 0.55; 95% CI, 0.42-0.70), while the G allele at rs2070699 was not significantly associated with the risk of pulmonary metastatic OS (P=0.15; adjusted OR, 1.15; 95% CI, 0.87-1.50). 24069190

2013

dbSNP: rs17655
rs17655
0.020 GeneticVariation BEFREE Excision repair cross-complementing (ERCC) group 2 (XPD; rs13181 and rs1799793), group 5 (XPG; rs17655) and group 1 (XPA; rs3212986 and rs11615) polymorphisms were analyzed in a group of 130 homogenously treated patients with high-grade osteosarcoma, for association with event-free survival (EFS), using the Kaplan-Meier plots and log-rank test. 21826087

2012

dbSNP: rs28934576
rs28934576
0.020 GeneticVariation BEFREE Some of the genetic changes identified were in tumor suppressor genes previously identified as altered in osteosarcoma: p53 (arginine→histidine at codon 273 [R273H], R→cysteine at codon 723 [R273C], and tyrosine→C at codon 163 [Y163C]) and retinoblastoma 1 (RB1) (glutamic acid→* at codon 137 [E137*]). 22006429

2012

dbSNP: rs231775
rs231775
0.020 GeneticVariation BEFREE The current study evaluated the association of four CTLA-4 gene mutations, -1661A/G (rs4553808), -318C/T (rs5742909), +49G/A (rs231775), and CT60A/G (rs3087243), with osteosarcoma in the Chinese population. 21612409

2011