Top 20 SNPs associated with symptomatic (grade 2-4) osteonecrosis
| SNP ID . | Chromosome . | Location* . | Gene . | MAF . | Risk allele . | P . | OR† (95% CI) . | Major allele/minor allele . |
|---|---|---|---|---|---|---|---|---|
| rs4241316 | 2 | 242197 | SH3YL1 | 0.074 | C | 1.2 × 10−6 | 5.8 (2.9-11.9) | T/C |
| rs12714403 | 2 | 263070 | ACP1 | 0.075 | A | 1.9 × 10−6 | 5.6 (2.7-11.3) | G/A |
| rs10167992 | 2 | 253270 | ACP1 | 0.075 | T | 1.9 × 10−6 | 5.6 (2.7-11.3) | C/T |
| rs10193882 | 2 | 236301 | SH3YL1 | 0.078 | T | 3.6 × 10−6 | 5.3 (2.6-10.7) | A/T |
| rs9417254 | 10 | 20055938 | NA | 0.390 | C | 4.6 × 10−6 | 3.8 (2.1-6.6) | T/C |
| rs564065 | 3 | 126296212 | SLC12A8 | 0.460 | G | 1.1 × 10−5 | 3.2 (5.4-1.9) | C/G |
| rs7625035 | 3 | 135210556 | SLCO2A1 | 0.215 | G | 1.6 × 10−5 | 3.0 (1.8-5.0) | A/G |
| rs999828 | 5 | 67311044 | NA | 0.197 | T | 1.9 × 10−5 | 3.5 (2.0-6.3) | C/T |
| rs1446466 | 2 | 164744133 | NA | 0.175 | T | 2 × 10−5 | 3.1 (5.3-1.8) | A/T |
| rs10738147 | 9 | 1002154 | NA | 0.381 | T | 2.2 × 10−5 | 3.0 (5.0-1.8) | C/T |
| rs615231 | 11 | 55977651 | OR5M9 | 0.170 | C | 2.3 × 10−5 | 2.9 (4.6-1.8) | G/C |
| rs7594255 | 2 | 164673066 | NA | 0.164 | C | 2.3 × 10−5 | 3.3 (5.6-1.9) | T/C |
| rs12473215 | 2 | 164698503 | NA | 0.166 | A | 2.7 × 10−5 | 3.1 (5.4-1.8) | T/A |
| rs449725 | 2 | 192993 | NA | 0.103 | C | 2.8 × 10−5 | 4.0 (2.1-7.6) | G/C |
| rs17436622 | 2 | 164743855 | NA | 0.171 | G | 3.1 × 10−5 | 3.0 (5.0-1.8) | A/G |
| rs10078620 | 5 | 67281259 | NA | 0.194 | T | 3.2 × 10−5 | 3.3 (1.9-5.9) | G/T |
| rs9567986 | 13 | 47516171 | NUDT15 | 0.330 | T | 3.3 × 10−5 | 2.7 (1.7-4.3) | C/T |
| rs7398018 | 12 | 130605295 | NA | 0.411 | T | 3.5 × 10−5 | 2.7 (1.7-4.3) | C/T |
| rs4845763 | 1 | 150654762 | CRNN | 0.135 | C | 3.6 × 10−5 | 3.0 (1.8-5.0) | T/C |
| rs2159473 | 7 | 146395930 | CNTNAP2 | 0.362 | A | 3.8 × 10−5 | 3.2 (5.6-1.8) | A/G |
| SNP ID . | Chromosome . | Location* . | Gene . | MAF . | Risk allele . | P . | OR† (95% CI) . | Major allele/minor allele . |
|---|---|---|---|---|---|---|---|---|
| rs4241316 | 2 | 242197 | SH3YL1 | 0.074 | C | 1.2 × 10−6 | 5.8 (2.9-11.9) | T/C |
| rs12714403 | 2 | 263070 | ACP1 | 0.075 | A | 1.9 × 10−6 | 5.6 (2.7-11.3) | G/A |
| rs10167992 | 2 | 253270 | ACP1 | 0.075 | T | 1.9 × 10−6 | 5.6 (2.7-11.3) | C/T |
| rs10193882 | 2 | 236301 | SH3YL1 | 0.078 | T | 3.6 × 10−6 | 5.3 (2.6-10.7) | A/T |
| rs9417254 | 10 | 20055938 | NA | 0.390 | C | 4.6 × 10−6 | 3.8 (2.1-6.6) | T/C |
| rs564065 | 3 | 126296212 | SLC12A8 | 0.460 | G | 1.1 × 10−5 | 3.2 (5.4-1.9) | C/G |
| rs7625035 | 3 | 135210556 | SLCO2A1 | 0.215 | G | 1.6 × 10−5 | 3.0 (1.8-5.0) | A/G |
| rs999828 | 5 | 67311044 | NA | 0.197 | T | 1.9 × 10−5 | 3.5 (2.0-6.3) | C/T |
| rs1446466 | 2 | 164744133 | NA | 0.175 | T | 2 × 10−5 | 3.1 (5.3-1.8) | A/T |
| rs10738147 | 9 | 1002154 | NA | 0.381 | T | 2.2 × 10−5 | 3.0 (5.0-1.8) | C/T |
| rs615231 | 11 | 55977651 | OR5M9 | 0.170 | C | 2.3 × 10−5 | 2.9 (4.6-1.8) | G/C |
| rs7594255 | 2 | 164673066 | NA | 0.164 | C | 2.3 × 10−5 | 3.3 (5.6-1.9) | T/C |
| rs12473215 | 2 | 164698503 | NA | 0.166 | A | 2.7 × 10−5 | 3.1 (5.4-1.8) | T/A |
| rs449725 | 2 | 192993 | NA | 0.103 | C | 2.8 × 10−5 | 4.0 (2.1-7.6) | G/C |
| rs17436622 | 2 | 164743855 | NA | 0.171 | G | 3.1 × 10−5 | 3.0 (5.0-1.8) | A/G |
| rs10078620 | 5 | 67281259 | NA | 0.194 | T | 3.2 × 10−5 | 3.3 (1.9-5.9) | G/T |
| rs9567986 | 13 | 47516171 | NUDT15 | 0.330 | T | 3.3 × 10−5 | 2.7 (1.7-4.3) | C/T |
| rs7398018 | 12 | 130605295 | NA | 0.411 | T | 3.5 × 10−5 | 2.7 (1.7-4.3) | C/T |
| rs4845763 | 1 | 150654762 | CRNN | 0.135 | C | 3.6 × 10−5 | 3.0 (1.8-5.0) | T/C |
| rs2159473 | 7 | 146395930 | CNTNAP2 | 0.362 | A | 3.8 × 10−5 | 3.2 (5.6-1.8) | A/G |
SNP ID indicates SNP identifier according to the dbSNP database; MAF, minor allele frequency; CI, confidence interval; OR, odds ratio; and NA, SNP is not annotated to any gene.
Physical location of SNP based on March 2006 human genome assembly (hg18).
OR is for each additional risk allele. For example, for rs4241316, the OR for developing grade 2 to 4 osteonecrosis is 5.8-fold higher for those with CC versus CT versus TT genotype.