Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: rs17111750
rs17111750
0.010 GeneticVariation BEFREE The present study was designed to determine whether APE1 polymorphisms (rs1130409, rs1760944, rs1760941, rs2275008, rs17111750) are associated with OS. 28839218

2017

dbSNP: rs231755
rs231755
0.010 GeneticVariation BEFREE The genotypic association analyses showed that the CTLA4 rs231755 was associated with osteosarcoma susceptibility in the Spanish population. 28052683

2019

dbSNP: rs7591996
rs7591996
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: rs8103992
rs8103992
0.010 GeneticVariation BEFREE An expression quantitative trait locus for cartilage intermediate layer protein 2 (CILP2), rs8103992, was significantly associated with osteosarcoma risk after adjustment for multiple comparisons (odds ratio, 1.35; 95% CI, 1.16-1.56 [P = 7.93×10<sup>-5</sup> and P<sub>adjusted</sub> =.034]). 30311632

2018

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: 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: 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: rs1223868338
rs1223868338
0.010 GeneticVariation BEFREE This study suggests an association between the Fas exon 3 A>G polymorphism and osteosarcoma risk; however, further study is needed with pediatric controls and a larger sample size. 18090928

2007

dbSNP: rs1872328
rs1872328
0.010 GeneticVariation BEFREE This is the first study replicating the association of ACYP2 variant rs1872328 with cisplatin-induced ototoxicity in patients with osteosarcoma who did not receive potentially ototoxic cranial irradiation. 26928270

2016

dbSNP: rs17206779
rs17206779
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: rs1800544
rs1800544
0.010 GeneticVariation BEFREE Functionality of rs553668 and rs1800544 single nucleotide polymorphism SNPs located in α2A-AR gene was analysed by qPCR expression on bone samples and luciferase reporter assay in human osteosarcoma HOS cells. 25818344

2015

dbSNP: rs553668
rs553668
0.010 GeneticVariation BEFREE Functionality of rs553668 and rs1800544 single nucleotide polymorphism SNPs located in α2A-AR gene was analysed by qPCR expression on bone samples and luciferase reporter assay in human osteosarcoma HOS cells. 25818344

2015

dbSNP: rs1215600806
rs1215600806
0.010 GeneticVariation BEFREE Plasmids created for mutants 1 c.110T>C (L37P), 2 c.532T>C (Y178H) and 3 c.715G>T (D239Y) using in vitro mutagenesis were transfected into human osteosarcoma (U<sub>2</sub>OS) cells and compared to wildtype (WT) and mock cDNA. 31146036

2019

dbSNP: rs1215600806
rs1215600806
0.010 GeneticVariation BEFREE Plasmids created for mutants 1 c.110T>C (L37P), 2 c.532T>C (Y178H) and 3 c.715G>T (D239Y) using in vitro mutagenesis were transfected into human osteosarcoma (U<sub>2</sub>OS) cells and compared to wildtype (WT) and mock cDNA. 31146036

2019

dbSNP: rs1416572796
rs1416572796
0.010 GeneticVariation BEFREE Plasmids created for mutants 1 c.110T>C (L37P), 2 c.532T>C (Y178H) and 3 c.715G>T (D239Y) using in vitro mutagenesis were transfected into human osteosarcoma (U<sub>2</sub>OS) cells and compared to wildtype (WT) and mock cDNA. 31146036

2019

dbSNP: rs143358506
rs143358506
0.010 GeneticVariation BEFREE Plasmids created for mutants 1 c.110T>C (L37P), 2 c.532T>C (Y178H) and 3 c.715G>T (D239Y) using in vitro mutagenesis were transfected into human osteosarcoma (U<sub>2</sub>OS) cells and compared to wildtype (WT) and mock cDNA. 31146036

2019

dbSNP: rs143358506
rs143358506
0.010 GeneticVariation BEFREE Plasmids created for mutants 1 c.110T>C (L37P), 2 c.532T>C (Y178H) and 3 c.715G>T (D239Y) using in vitro mutagenesis were transfected into human osteosarcoma (U<sub>2</sub>OS) cells and compared to wildtype (WT) and mock cDNA. 31146036

2019

dbSNP: rs1760944
rs1760944
0.010 GeneticVariation BEFREE This study suggested that APE1 rs1760944 polymorphism is associated with decreased risk of developing OS and better survival of OS patients. 28839218

2017

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: rs2372536
rs2372536
0.010 GeneticVariation BEFREE Even though the role of single nucleotide polymorphisms of ATIC in chemotherapy-induced tumor necrosis has not been investigated yet, the ATIC 347C>G polymorphism may influence the levels of adenosine after MTX treatment, which may affect the histologic response of osteosarcoma. 28267080

2017

dbSNP: rs199476133
rs199476133
ATP6 ; ATP8 ; COX3 ; ND3 ; ND4 ; ND4L
0.010 GeneticVariation BEFREE In order to identify genes whose expression is altered as a result of the presence of mtDNA mutations, DNA microarray analysis was performed using human 143B osteosarcoma cells harboring 3243A>G [tRNA-Leu (UUR)] and 8993T>G [ATPase6 Leu156Arg] mtDNA mutations associated with MELAS and NARP syndromes (2SD and NARP3-1 cybrid cells), respectively. 17276738

2007

dbSNP: rs3787547
rs3787547
0.010 GeneticVariation BEFREE We found that rs1295925 (OR = 0.85; 95 CI = 0.76-0.94; P = 0.003) and rs3787547 (OR = 1.27; 95 CI = 1.11-1.45; P = 4.0 × 10<sup>-4</sup>) was significantly with OS</span> susceptibility. 29595404

2018

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