Table 1.

Features of nine genome regions reported in previous face GWASs for which genome-wide significant association is also observed here.

Chromosomal region	Index SNP	Candidate gene	# significant ILDs	# significant SNPs	Strongest P-value	Refs.
2q12.3	rs72627476	EDAR	75	1245	5.60 × 10−34	1,2,8
7p14.1	rs846315	GLI3	5	31	1.20 × 10−12	1,15
2q36.1	rs13022712	PAX3	18	37	6.42 × 10−12	2,4,8–11,15,17
5q13.2	rs7341037	FOXD1	10	18	1.49 × 10−10	31
6p21.1	rs141680515	SUPT3H/RUNX2	15	275	1.68 × 10−10	1,2,4,8,11,15
15q21.1	rs1426654	SLC24A5	2	4	1.74 × 10−10	2
4q31.3	rs2045323	DCHS2/SFRP2	8	64	9.35 × 10−10	1,2,4,15
5p12	rs4505960	FGF10	3	1	2.43 × 10−8	15
15q25.2	rs62027787	ADAMTSL3	1	3	2.65 × 10−8	15

Genes underlined include significantly associated SNPs. Genes in bold include an associated SNP leading to an amino-acid substitution.