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. 2021 Aug 6;11:16013. doi: 10.1038/s41598-021-94994-9

Table 2.

Leading SNPs at three loci have been established of T1D association.

CHR dbSNP BP (hg38) Gene.refGene A1 Quality Score (r2) Genotyped Low PRS cases versus low PRS controls U95 P All cases versus all controls in cohort B U95 P OR heterogeneity P
MAF n OR L95 MAF n OR L95
a. First cohort
1 rs2476601 11,38,34,946 PTPN22 A 0.99897 Genotyped 0.08676 6118 1.87 1.594 2.194 1.55E−14 0.1112 9450 2.244 2.048 2.458 1.92E−67 0.052
6 rs9273368 3,26,58,698 HLA-DQB1 A 0.97908 Imputed 0.2586 6118 4.073 3.616 4.587 1.24E−118 0.3841 9450 6.018 5.572 6.5 < 1E350 6.67E−08
11 rs689 21,60,994 INS A 0.89726 Imputed 0.2572 6118 0.391 0.3354 0.4559 4.02E−33 0.2331 9450 0.4442 0.4098 0.4815 1.03E−86 0.149
b. Switched cohort
1 rs2476601 11,38,34,946 PTPN22 A 0.99897 Genotyped 0.09515 6460 2.216 1.921 2.557 1.03E−27 0.1152 9465 2.268 2.07 2.484 3.53E−69 0.789
6 rs9273368 3,26,58,698 HLA-DQB1 A 0.97908 Imputed 0.2584 6460 3.809 3.416 4.247 6.19E−128 0.376 9465 5.937 5.503 6.404 < 1E350 5.49E−11
11 rs689 21,60,994 INS A 0.89726 Imputed 0.259 6460 0.4553 0.3972 0.5218 1.23E−29 0.2366 9465 0.4883 0.4517 0.5279 1.54E−72 0.383
12 rs1702877 5,60,34,024 IKZF4 T 0.98704 Imputed 0.3276 6460 1.353 1.22 1.501 1.03E−08 0.3427 9465 1.366 1.282 1.455 3.59E−22 0.877

Italic values indicate the smallest P value.