Table 1.- Variants (SNPs) included in the PRS calculation
(Disease/Trait: Craniofacial_microsomia)
rsID Risk allele Effect size
rs13089920 A 1.645
rs10459648 T 0.462
rs11263613 G 0.519
rs3754648 G 0.329
rs17090300 G 0.837
rs7420812 T 0.285
rs10905359 A 0.274
rs754423 C 0.239
rs4750407 A 0.239
rs7222240 G 0.548
Effect size: LN(OR)
Table 2.- PRS Score distribution among populations and regions
(Disease/Trait: Craniofacial_microsomia)
count mean sd se lower.ci upper.ci
Pyrenean regions
WEST 168 0.400 0.060 0.005 0.391 0.409
SOUTH 83 0.394 0.054 0.006 0.383 0.406
EAST 146 0.406 0.058 0.005 0.396 0.415
Populations
IBS 107 0.398 0.056 0.005 0.387 0.409
PIR 397 0.401 0.058 0.003 0.395 0.407
Table 3.- Pairwise t-test for PRS score among populations and regions
(Disease/Trait: Craniofacial_microsomia)
group1 group2 n1 n2 p p.signif p.adj p.adj.signif
IBS PIR 107 397 0.653 ns 1 ns
IBS WEST 107 168 0.776 ns 1 ns
IBS SOUTH 107 83 0.668 ns 1 ns
IBS EAST 107 146 0.313 ns 1 ns
WEST SOUTH 168 83 0.466 ns 1 ns
WEST EAST 168 146 0.411 ns 1 ns
SOUTH EAST 83 146 0.165 ns 1 ns
* p < .05, ** p < .01, *** p < .001
Table 4.- Chi-square test comparison of percentile counts on Pyrenean regions compared to Iberian peninsula population
(Disease/Trait: Craniofacial_microsomia)
Percentile rank PIR WEST SOUTH EAST
adj.std.val p.value sig.val adj.std.val p.value sig.val adj.std.val p.value sig.val adj.std.val p.value sig.val
pct95 −1.080 0.280 . white 0.620 0.535 . white −1.080 0.280 . white 1.070 0.285 . white
pct75.95 0.400 0.689 . white 1.250 0.211 . white 0.400 0.689 . white 0.940 0.347 . white
pct50.75 0.530 0.596 . white −0.210 0.834 . white 0.530 0.596 . white 0.550 0.582 . white
pct25.50 −0.750 0.453 . white −0.500 0.617 . white −0.750 0.453 . white −1.280 0.201 . white
pct25 0.280 0.779 . white −0.730 0.465 . white 0.280 0.779 . white −0.690 0.490 . white
adj.std.val: Adjusted standardized residuals value; p.value: P value; sig.val: statistical significance, * p < .05, ** p < .01, *** p < .001; red dash to bottom: lower counts than reference; green dash to up: upper counts than reference