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. 2021 Jan 29;45(1):169–178. doi: 10.1016/j.bj.2021.01.006

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)
a

Information from NCBI SNP database (GRCh38.p7) and HapMap database.

b

Minor allele frequency.

c

Han Chinese in Beijing.

d

CHB+JPT (Han Chinese in Beijing+ Japanese from 1000 GENOMES).