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. 2015 Nov 1;8(11):15147–15154.

Table 1.

Primary information for sixteen Genotyped SNPs

Genotyped SNPs Chra Regulome DB Scoreb Location TFBSc Functional Consequence MAFd for Chinese in database MAF in our controls (n = 826) P-value for HWEe test in our controls Genotyping value (%)
CASP8: rs1035142 G>T 2 No data 3’-Flanking - downstream variant 500 B 0.279 0.283 0.612 97.3
CASP7: rs3127075 G>C 10 No data Intron2 - intron variant 0.140 0.180 0.946 98.9
CASP7: rs7907519 C>A 10 4 5’-UTR_intron1 - intron variant 0.289 0.278 0.977 99.5
FAS: rs2234767 G>A 10 4 5’-Flanking Y upstream variant 2 KB 0.358 0.335 0.977 98.7
FASL/FASLG: rs763110 C>T 1 2a 5’-Flanking Y upstream variant 2 KB 0.298 0.255 0.245 99.3
TP53BP1: rs560191 G>C 15 1f nonsynon_exon9 - missense 0.444 0.431 0.003 97.7
BCL2: rs17757541 C>G 18 6 Intron3 - intron variant 0.134 0.149 0.583 99.3
BCL2: rs12454712 T>C 18 2b Intron3 - intron variant 0.477 0.460 0.378 99.4
ERBB2: rs1136201 A>G 17 4 nonsynon_exon17 - missense 0.221 0.121 0.678 97.4
VEGFR2/KDR: rs11941492 C>T 4 No data Intron8 - intron variant 0.314 0.327 0.615 99.4
C1orf10/CRNN: rs3753443 C>T 1 No data 5’-Flanking Y upstream variant 2 KB 0.456 0.435 0.853 98.0
C1orf10/CRNN: rs3753444 C>G 1 6 5’-Flanking Y upstream variant 2 KB 0.456 0.436 0.944 99.5
C1orf10/CRNN: rs3753446 C>A 1 No data 5’-Flanking Y upstream variant 2 KB 0.467 0.458 0.700 99.2
C1orf10/CRNN: rs3829868 C>T 1 No data nonsynon_exon3 - missense 0.456 0.437 0.886 99.1
C1orf10/CRNN: rs4285700 C>A 1 6 5’-Flanking Y upstream variant 2 KB 0.453 0.436 0.960 99.5
C1orf10/CRNN: rs10888486 C>T 1 No data 3’-UTR_exon3 - utr variant 3 prime 0.453 0.437 0.951 98.8
a

Chr, chromosome;

b

http://www.regulomedb.org/;

c

TFBS, transcription factor binding site (http://snpinfo.niehs.nih.gov/snpinfo/snpfunc.htm);

d

MAF, minor allele frequency, FAS rs2234767 G>A and C1orf10/CRNN rs3753446 C>A MAF is in CHB+JPT population;

e

HWE, Hardy-Weinberg equilibrium.