Table 1.- Variants (SNPs) included in the PRS calculation
(Disease/Trait: Cleft_lip)
rsID Risk allele Effect size
rs987525 A 0.577
Effect size: LN(OR)
Table 2.- PRS Score distribution among populations and regions
(Disease/Trait: Cleft_lip)
count mean sd se lower.ci upper.ci
Pyrenean regions
WEST 168 0.131 0.172 0.013 0.104 0.157
SOUTH 83 0.129 0.151 0.017 0.096 0.162
EAST 146 0.128 0.176 0.015 0.100 0.157
Populations
IBS 107 0.135 0.174 0.017 0.101 0.168
PIR 397 0.129 0.169 0.008 0.113 0.146
Table 3.- Pairwise t-test for PRS score among populations and regions
(Disease/Trait: Cleft_lip)
group1 group2 n1 n2 p p.signif p.adj p.adj.signif
IBS PIR 107 397 0.768 ns 1 ns
IBS WEST 107 168 0.838 ns 1 ns
IBS SOUTH 107 83 0.803 ns 1 ns
IBS EAST 107 146 0.768 ns 1 ns
WEST SOUTH 168 83 0.933 ns 1 ns
WEST EAST 168 146 0.914 ns 1 ns
SOUTH EAST 83 146 0.994 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: Cleft_lip)
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 −1.600 0.110 . white −0.090 0.928 . white −1.600 0.110 . white 0.190 0.849 . white
pct75.95 0.000 1.000 . white 0.000 1.000 . white 0.000 1.000 . white 0.000 1.000 . white
pct50.75 0.940 0.347 . white −0.170 0.865 . white 0.940 0.347 . white −0.550 0.582 . white
pct25.50 0.000 1.000 . white 0.000 1.000 . white 0.000 1.000 . white 0.000 1.000 . white
pct25 −0.310 0.757 . white 0.200 0.841 . white −0.310 0.757 . white 0.440 0.660 . 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