Table 2 Association analysis results of COL2A1 in the discovery GWAS.

From: Genome-wide association study identifies COL2A1 locus involved in the hand development failure of Kashin-Beck disease

SNP

Type

Allele

MAF

D’

r2

β (SE)

P value

rs2071358

genotyped

A/C

0.356

—

—

−0.501 (0.099)

4.68 × 10−8

rs4760608

genotyped

A/C

0.349

0.966

0.057

−0.101 (0.025)

1.76 × 10−4

rs3782915

imputed

A/G

0.297

0.931

0.052

−0.302 (0.056)

4.22 × 10−7

rs740024

imputed

G/T

0.443

0.646

0.021

−0.171 (0.039)

9.34 × 10−5

  1. Note: D’ and r2 denote linkage disequilibrium D’ and r2 values with the lead SNP rs2071358. MAF denotes minor allele frequency. β and SE denote effect size and related standard error.
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