Table 1.
Data for TP53 htSNPs selected and SNPs in PPP1R13L and CD3EAPa.
dbSNP ID | Position | Location | Base change | Allele frequency in HapMap HCBc | MAFb in controls for current study |
---|---|---|---|---|---|
Chr17p13.1 | |||||
TP53 | |||||
rs12951053 | 7674089 | intron | A/C | A0.667/C0.333 | C: 0.34 |
rs1042522 | 7676154 | exon4 | G/C | G0.511/C0.489 | C: 0.45 |
Codon 72 (R [Arg] [CGC]) ⇒ P [Pro] [CCC] (missense) | |||||
rs8079544 | 7676734 | intron | C/T | C0.878/T0.122 | T: 0.08 |
rs12602273 | 7679695 | intron | C/G | C0.678/G0.322 | G: 0.28 |
rs8064946 | 7685993 | intron | G/C | G0.622/C0.378 | C: 0.32 |
Chr19q13.3 | |||||
PPP1R13La | |||||
rs1970764 | 45387615 | intron | A/G | No | G: 0.46 |
CD3EAPa | |||||
rs967591 | 45406676 | 5′ UTR | G/A | G0.525/A0.475d | A: 0.39 |
rs735482 | 45408744 | exon3 | A/C | A0.556/C0.444 | C: 0.45 |
Codon 261 (K [Lys] [AAA] ⇒ T [Thr] [ACA]) (missense) |
Information from NCBI SNP database (GRCh38.p7) and HapMap database.
Minor allele frequency.
Han Chinese in Beijing.
CHB+JPT (Han Chinese in Beijing+ Japanese from 1000 GENOMES).