Table 2.
SNPs selected in models for the regions showing evidence for multiple independent associations
Single SNP result |
Logistic regression of multiple variant models |
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Region | SNP name | Position | Mapped gene | Allele | Allele frequency | OR | p value | r2 with top SNP | OR | p value | R2 for melanoma risk |
TERT | rs7705526 | 1285974 | TERT | A | 0.332 | 1.13 | 2.9 × 10−5 | 0.09 | 1.09 | 0.026 | 0.46 |
rs2736099 | 1287340 | TERT | A | 0.374 | 1.12 | 6.6 × 10−5 | 0.14 | 1.09 | 0.025 | ||
rs1801075 | 1317949 | intergenic | C | 0.172 | 1.23 | 2.7 × 10−10 | 0.51 | 1.08 | 0.050 | ||
rs2447853 | 1333077 | CLPTM1L | G | 0.468 | 1.20 | 5.7 × 10−12 | Top SNP | 1.18 | 1.3 × 10−7 | ||
CDKN2A | rs869330 | 21804617 | MTAP | G | 0.513 | 0.81 | 3.9 × 10−16 | Top SNP | 0.81 | 8.0 × 10−16 | 0.65 |
rs3088440 | 21968159 | CDKN2A | A | 0.089 | 1.21 | 2.0 × 10−5 | 0.03 | 1.13 | 0.014 | ||
rs3731204 | 21984661 | CDKN2A | C | 0.148 | 0.81 | 2.2 × 10−8 | 0.03 | 0.84 | 8.1 × 10−6 | ||
rs1011970 | 22062134 | CDKN2B-AS1 | T | 0.166 | 1.17 | 2.3 × 10−6 | 0.02 | 1.09 | 0.033 | ||
CCND1 | rs2290419 | 68919649 | intergenic | G | 0.057 | 0.78 | 2.1 × 10−5 | 0.03 | 0.76 | 7.2 × 10−6 | 0.37 |
rs623110 | 69308897 | intergenic | T | 0.314 | 1.13 | 1.3 × 10−5 | 0.35 | 1.07 | 0.015 | ||
rs12422135 | 69378736 | intergenic | A | 0.409 | 1.18 | 3.5 × 10−10 | Top SNP | 1.15 | 3.1 × 10−7 | ||
ASIP | rs74325991 | 32547380 | intergenic | G | 0.490 | 1.18 | 8.8 × 10−8 | 0.38 | 1.11 | 0.0025 | 0.31 |
rs6059655 | 32665748 | RALY | A | 0.086 | 1.33 | 2.1 × 10−11 | Top SNP | 1.26 | 4.6 × 10−7 | ||
For each region the model with the greatest number of SNPs in shown after 100 iterations of Hyperlasso. Two different 2-SNP models occurred for ASIP, both include rs6059655 with either rs74325991 (presented here) or rs6088372 (not shown). The ORs (odd ratios) for the stated allele and p values are presented for the results from the single SNP analysis and when including all listed SNPs at that locus. The LD (r2) with the most significant SNP in this study (Top SNP) is estimated from the correlation coefficient. The R2 for percentage of variation explained in melanoma risk is given for including all listed SNPs at that locus.