Table 2

All 22q12.2 SNPs in the GWAS catalogue that have r2>0.2 with rs2412971

Tonsillectomy GWASGWAS catalogue associations
Position (bp)
SNP (effect/alternative allele)
p ValueOR (95% CI)r2DiseaseRisk alleleRisk allele freqp ValueOR (95% CI)PMID
30 494 371
rs2412971 (G/A)
6.99E-91.27 (1.17 to 1.37)1IgA nephropathyG0.491.86E-91.25 (NA)21399633
6.99E-91.27 (1.17 to 1.37)1IgA nephropathyG0.544.80E-121.20 (NA)25305756
6.99E-91.27 (1.17 to 1.37)1IgA nephropathyG0.676.00E-111.35 (NA)25305756
30 486 826
rs2412970 (A/G)
1.64E-81.26 (1.16 to 1.37)0.997Inflammatory bowel diseaseG0.462.70E-141.08 (1.05 to 1.11)23128233
1.64E-81.26 (1.16 to 1.37)0.997Optic disc areaG0.433.40E-81.02 (NA)25631615
30 529 631
rs2412973 (C/A)
1.92E-81.26 (1.16 to 1.37)0.987IgA nephropathyC0.494.46E-91.25 (NA)21399633
1.92E-81.26 (1.16 to 1.37)0.987Inflammatory bowel disease (early onset)A0.461.55E-91.15 (1.01 to 1.31)19915574
30 592 487
rs713875 (G/C)
3.25E-81.26 (1.16 to 1.36)0.988Crohn’s diseaseC0.477.30E-121.08 (1.04 to 1.13)21102463
30 423 460
rs12537 (C/T)
9.33E-61.21 (1.11 to 1.32)0.791IgA nephropathyC0.811.17E-111.28 (1.19 to 1.39)22197929
30 337 586
rs36600 (C/T)
5.69E-51.21 (1.10 to 1.33)0.625Lung cancerA0.096.20E-131.29 (1.20 to 1.38)21725308
  • bp, base pair; GWAS, genome-wide association study; PMID, PubMed ID number for the article reporting the association; r2, correlation with rs2412971.