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Table 4 Association between the three SNPs within the COL10A1 and HABP2 genes and the presence of KBD revealed in the exon sequencing analysis

From: Association study of candidate genes for susceptibility to Kashin-Beck disease in a Tibetan population

Gene

SNP

Amino change

Minor_allele

P_allele

MAF

Case/Control

P_HWE

Case/Control

OR

(95% CI)

COL10A1

rs142463796

p.Asp128Asn

T

6 × 10−3

0.011/0.001

0.769/0.981

9.832 (1.302–74.266)

COL10A1

rs2228547

p.Gly545Arg

C

0.043

0.188/0.156

0.460/0.056

1.242 (0.999–1.544)

HABP2

rs548354451

p.Asp272Glu

A

0.010

0.020/0.007

0.566/0.874

2.813 (1.237–6.397)

  1. SNP single-nucleotide polymorphism, P_allele the association P value for minor allele, MAF Minor Allele Frequency, P_HWE the P value of Hardy-Weinberg equilibrium (HWE), OR odds ratio for the effect allele, 95% CI 95% confidence interval