Table 1. Characteristics for MDM2 htSNPs selected and SNPs in PPP1R13L and CD3EAP and htSNPs in TP53a.
| dbSNP ID | Position | Location | Base change | Allele frequency in HapMap HCBb | MAFc in controls for current study |
|---|---|---|---|---|---|
| Chr12q15 | |||||
| MDM2 | |||||
| rs1690924 | 68811541 | Intron | A/G | A: 0.814/G: 0.186 | G: 0.24 |
| rs1846402 | 68814798 | Intron | G/T | G: 0.826/T: 0.174 | T: 0.16 |
| rs2291857 | 68824258 | Intron | C/A | C: 0.700/A: 0.300 | A: 0.32 |
| rs3730581 | 68825712 | Intron | A/G | A: 0.581/G: 0.419 | G: 0.49 |
| rs3730635 | 68835343 | Intron | A/G | A: 0.946/G: 0.054 | G: 0.02 |
| Chr19q13.3 | |||||
| PPP1R13La | |||||
| rs1970764 | 45387615 | Intron | A/G | No | G: 0.48 |
| CD3EAPa | |||||
| rs967591 | 45406676 | 5’UTR | G/A | G: 0.525/A: 0.475d | A: 0.42 |
| rs735482 | 45408744 | Exon3 | A/C | A: 0.558/C: 0.442 | C: 0.45 |
| Codon 261 (K [Lys] [AAA] ⇒ T [Thr] [ACA]) (missense) | |||||
| Chr17p13.1 | |||||
| TP53 | |||||
| rs12951053 | 7674089 | Intron | A/C | A: 0.667/C: 0.333 | C: 0.34e |
| rs1042522 | 7676154 | Exon4 | G/C | G: 0.511/C: 0.489 | C: 0.45e |
| Codon 72 (R [Arg] [CGC]) ⇒ P [Pro] [CCC] (missense) | |||||
| rs8079544 | 7676734 | Intron | C/T | C: 0.878/T: 0.122 | T: 0.08e |
| rs12602273 | 7679695 | Intron | C/G | C: 0.678/G: 0.322 | G: 0.28e |
| rs8064946 | 7685993 | Intron | G/C | G: 0.622/C: 0.378 | C: 0.32 e |
a, information from NCBI SNP database (GRCh38.p7) and HapMap database; b, Han Chinese in Beijing; c, minor allele frequency; d, CHB+JPT (Han Chinese in Beijing + Japanese from 1000 GENOMES); e, from previous result, here this is employed for interaction analysis.