Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs10019009
rs10019009
0.010 GeneticVariation BEFREE We performed a functional analysis of rs10019009 via reverse transcription-polymerase chain reaction, alkaline phosphatase (ALP) activity in human osteosarcoma U 2 OS cells. 26960368

2016

dbSNP: rs1005464
rs1005464
0.010 GeneticVariation BEFREE Haplotype analysis also showed that carriers of the G-T-T-G and A-T-T-G haplotypes (rs235764-rs3178250-rs235768-rs1005464) had significant increased risks of osteosarcoma (age-adjusted OR = 1.85, 95% CI of 1.28-2.66 and age-adjusted OR = 1.51, 95% CI of 1.06-2.16) compared with the G-C-T-A haplotype carriers. 25391427

2015

dbSNP: rs10208273
rs10208273
0.010 GeneticVariation BEFREE In earlier genome-wide association studies, rs7591996, rs10208273, rs17206779 and rs1906953 were identified as candidate loci for OS in Caucasians but the association of these single-nucleotide polymorphisms (SNPs) with OS in a Chinese Han population remains unknown. 24984297

2014

dbSNP: rs1042522
rs1042522
0.040 GeneticVariation BEFREE In the present meta-analysis, we aimed to elucidate the associations of TP53 rs1042522 genetic polymorphism with the risk of osteosarcoma or Ewing sarcoma. 30833364

2019

dbSNP: rs1042522
rs1042522
0.040 GeneticVariation BEFREE These data do not indicate a strong link between variation in TP53 and OS risk, although they provide preliminary evidence of an increased risk of OS associated with variants at IVS2+38 and Pro72Arg. 17096406

2007

dbSNP: rs1042522
rs1042522
0.040 GeneticVariation BEFREE The study provides evidence supporting the association of MDM2 SNP309 with high-grade osteosarcoma risk in females and shows that TP53 Arg72Pro has a prognostic value for overall survival and EFS in osteosarcoma patients. 19451596

2009

dbSNP: rs1042522
rs1042522
0.040 GeneticVariation BEFREE We found that subjects carrying rs12951053 CC genotype and rs1042522</span> GG genotype were significantly associated with risk of OS [odds ratio (OR)=1.68, 95% confidence intervals (CI): 1.05-2.68; OR=1.89, 95% CI: 1.16-3.07] compared with subjects carrying the common genotypes. 26045840

2015

dbSNP: rs1047768
rs1047768
0.020 GeneticVariation BEFREE Here, we performed a meta-analysis to determine the strength of the association between eight polymorphisms in the <i>ERCC</i> genes (rs11615, rs3212986, rs2298881, rs13181, rs1799793, rs1800067, rs2296147, and rs1047768) and prognosis of osteosarcoma patients treated with chemotherapy. 29950854

2018

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: rs104886003
rs104886003
0.010 GeneticVariation BEFREE Notably, multiple mutations were identified in phosphoinositide-3-kinase (PI3K), catalytic, alpha polypeptide (PIK3CA) (H1047R, E→lysine at codon 545 [E545K], and H→proline at codon 701 [H701P]) that were not observed previously in osteosarcoma. 22006429

2012

dbSNP: rs1052667
rs1052667
0.010 GeneticVariation BEFREE These results suggest that ARHGAP35 rs1052667 polymorphism may be associated with osteosarcoma risk and prognosis. 25136583

2014

dbSNP: rs1056629
rs1056629
0.010 GeneticVariation BEFREE This study aimed to explore the roles of microRNA-491-5p (miR-491) and its target MMP9 in the control of metastasis of osteosarcoma (OS) as well as how the rs1056629 polymorphism in the 3' untranslated region (3'UTR) of MMP9 compromises the interaction between miR-491 and MMP9. 27023472

2016

dbSNP: rs1057519736
rs1057519736
0.010 GeneticVariation BEFREE Furthermore, MsMab-1 stained IDH2-R172S-expressing osteosarcoma tissues in immunohistochemistry. 24403254

2013

dbSNP: rs1058808
rs1058808
0.010 GeneticVariation BEFREE HER2 gene rs1136201 and rs1058808 polymorphisms and haplotype C-T-G-G may be related to osteosarcoma susceptibility in Chinese Han population, indicating that the interaction of gene polrmorphism plays an role in osteosarcoma risk. 26464710

2015

dbSNP: rs1060501205
rs1060501205
0.010 GeneticVariation BEFREE She was found to have a base pair change (A-->C) at nucleotide 394 resulting in a lysine to glutamine amino acid change at codon 132 (K132Q), which remarkably has never been described in association with either adrenocortical carcinoma or osteosarcoma. 18989156

2008

dbSNP: rs1061970
rs1061970
0.010 GeneticVariation BEFREE CT genotype and C allele of COL1A1 at rs1061970, and CG genotype and G allele of COL1A1 at rs2075559 are associated with decreased susceptibility to osteosarcoma</span> in the Chinese population. 24072491

2014

dbSNP: rs11177386
rs11177386
0.010 GeneticVariation BEFREE Results from this study indicated that the allele-A and genotype-AA of MDM2 c.346G>A genetic variant could be an increased risk factor for the susceptibility to osteosarcoma and might be used as a potential molecular marker for evaluating the risk of osteosarcoma. 25551700

2015

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: rs1128503
rs1128503
0.020 GeneticVariation BEFREE The <i>ABCB1</i> (C1236T) polymorphism affects P-gp-mediated transport of osteosarcoma drugs in a drug-specific way. 30977678

2019

dbSNP: rs1131691014
rs1131691014
0.020 GeneticVariation BEFREE The study provides evidence supporting the association of MDM2 SNP309 with high-grade osteosarcoma risk in females and shows that TP53 Arg72Pro has a prognostic value for overall survival and EFS in osteosarcoma patients. 19451596

2009

dbSNP: rs1131691014
rs1131691014
0.020 GeneticVariation BEFREE These data do not indicate a strong link between variation in TP53 and OS risk, although they provide preliminary evidence of an increased risk of OS associated with variants at IVS2+38 and Pro72Arg. 17096406

2007

dbSNP: rs1136201
rs1136201
0.010 GeneticVariation BEFREE HER2 gene rs1136201 and rs1058808 polymorphisms and haplotype C-T-G-G may be related to osteosarcoma susceptibility in Chinese Han population, indicating that the interaction of gene polrmorphism plays an role in osteosarcoma risk. 26464710

2015

dbSNP: rs11556218
rs11556218
0.010 GeneticVariation BEFREE These findings suggest that rs11556218 TG/GG genotypes may be associated with increased susceptibility to OS, probably by increasing the production of IL16 level. 27703190

2016

dbSNP: rs11615
rs11615
0.100 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: rs11615
rs11615
0.100 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