Skip to main content
. 2012 Feb 1;20(7):801–805. doi: 10.1038/ejhg.2012.3

Table 1. Novel/missed and refined variants from 1000 genomes imputation-based analysis.

Type Trait Lead SNP in present study (association Pa) Chromosome band Gene MAF Estimated R2b Alleles Odds ratio (95% CI) Lead SNP in original Study (association P, LDc, physical distance, conditional Pd) Nearest SNP in literature (association P, LDc, physical distance, conditional Pd)
Missed T1D rs61839660 P=5.1 × 10−9 (1.8 × 10−8) 10p15 IL2RA intron 7 0.09 0.87 (0.90) C->T 1.60 (1.44–1.76) NA rs1225130718 (P=2.9 × 10−5; LD=0.74 (0.38) 28.8 kb Pcon=3.7 × 10−5)
Missed T2D rs7018475 P=2.5 × 10−8 (6.1 × 10−8) 9p21 CDKN2B -128 kb 0.24 0.79 (0.85) T->G 0.74 (0.64–0.85) NA rs1075728220 (P=2.7 × 10−3; LD=0.97 (0.41) 3.7 kb Pcon=3.7 × 10−7) rs1081166119, 20 (P=7.1 × 10−4; LD=0.50 (0.02) 3.6 kb Pcon=1.5 × 10−7) Pcon=0.5e
Refined CD rs11209026 P=4.2 × 10−21 (1.1 × 10−17) 1p31 IL23R exon 9 0.06 0.90 (0.91) G->A 3.18 (2.91–3.44) rs11805303 (P=5.8 × 10−12; LD=0.57 (0.01) 30.4 kb Pcon=7.6 × 10−17) rs1146580422 (P=7.7 × 10−20; LD=1.0 (0.88) 3.4 kb Pcon=7.9 × 10−3)
Refined T1D rs1265564 P=1.0 × 10−16 (1.1 × 10−16) 12q24 CUX2 intron 4 0.48 0.87 (0.92) A->C 0.69 (0.60–0.78) rs17696736 (P=1.5 × 10−14; LD=0.43 (0.18) 778.4 kb Pcon=5.3 × 10−6) rs318450418 (P=1.4 × 10−14; LD=0.74 (0.47) 176.2 kb Pcon=1.1 × 10−4)

Abbreviations: CD: Crohns's disease; T1D: type 1 diabetes; T2D: type 2 diabetes.

a

The first value is based on MACH/MACH2DAT and the value in brackets is based on BEAGLE/PLINK.

b

Imputation quality (estimated R2) based on MaCH and Beagle (values in brackets).

c

LD between lead SNP reported in this study and SNP in this column based on the same version of the 1000 genomes data, measured by D-prime (R2).

d

Conditional P-value of the lead SNP reported in this study conditioned on SNP in this column.

e

Conditional P-value of the lead SNP on the two-SNP (rs10757282 and rs10811661) haplotype.