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Table 1 Replication results on two selected SNPs in DSCAM in South Chinese population using 1470 cases and 943 controls

From: Association between DSCAM polymorphisms and non-syndromic Hirschsprung disease in Chinese population

SNP Chr BP Gene feature left_gene right_gene A1/A2 F_A F_U P OR 95% CI
P_hwe = 0.05 G/A
rs2837770 21 40,956,222 DSCAM intron[NM_001389.3] PCP4 BACE2 ADD 1169/1619 860/1026 1.25E-02 1.16 (1.03~ 1.31)
GENO 251/667/476 181/498/264 7.08E-03
DOM 918/476 679/264 4.68E-01 1.08 (0.88~ 1.34)
REC 251/1143 181/762 1.74E-03 1.33 (1.11~ 1.58)
rs8134673 21 40,970,181 DSCAM intron[NM_001389.3] PCP4 BACE2 ADD 1184/1604 867/1019 1.69E-02 1.16 (1.03~ 1.31)
GENO 255/674/465 184/499/260 1.21E-02
DOM 929/465 683/260 4.59E-01 1.08 (0.88~ 1.34)
REC 255/1139 184/759 3.05E-03 1.32 (1.10~ 1.58)
  1. SNP Single Nucleotide Polymorphism, Chr Chromosome, BP Base pair of where the SNP is located, Gene The gene where the SNP located to; Feature: the feature of the variants in the gene;left/right_gene: the upstream/ downstream gene where the variant located; A1/A2 indicates the risk allele and protective allele to disease; F_A/F_U indicates risk allele numbers of the SNP in cases or controls. The P value indicates the significance based on different association tests. The calculation of odds ratio (OR) and the 95% confidence of intervals (CI) is also based on the risk allele of each SNP