Exploring the Underlying Genetics of Craniofacial Morphology through Various Sources of Knowledge

Table 1

SNPs proven to have an influence on facial morphology, as shown by different published GWAS.

Publication	SNP	Gene	Effect
Paternoster et al., 2012	rs7559271	PAX3	Nasion–midendocanthion distance
Liu et al., 2012	rs4648379	PRDM16	Nose width and nose height
	rs168686344, rs12694574, rs974448	PAX3	Distance between eyeballs and nasion
	rs17447439	TP63	Distance between the eyeballs
	rs6555969	C5orf50	Nasion position
	rs805722	COL17A1	Distance between eyeballs and nasion
Adhikari et al., 2016	rs12644248	DCHS2	Columella inclination
	rs1852985	RUNX2	Nose bridge breadth
	rs17660804	GLI3	Nose wing breadth
	rs927833	PAX1	Nose wing breadth
	rs3827760	EDAR	Chin protrusion
Shaffer et al., 2016	rs6129564	MAFB	Cranial base width
	rs17106852	PAX9	Cranial base width
	rs17106852	MIPOL1	Cranial base width
	rs619686	ALX3	Intercanthal width
	rs11093404	HDAC8	Intercanthal width
	rs2424399	PAX1	Nasal width
Cole et al., 2016	rs79909949	SCHIP1	Centroid size
	rs12909111, rs12908400	PDE8A	Allometry