Table 1.

Susceptibility loci in AIS. Table of significant associations and OMIM-related phenotypes

Genome region	Marker	Candidate gene(s)	OMIM disorder	Reference
10q24.31	rs11190870	LBX1		59
6q24.1	rs6570507	GPR126	Lethal congenital contracture syndrome	61
9p22.2	rs3904778	BNC2		76
20p11.22	rs6137473	PAX1	Otofacial cervical syndrome 2	42
9q34.2	rs687621	ABO		68
11p15.2	rs1455114	SOX6	Craniofacial dyssynostosis with short stature	68
16q23.3	rs4513093	CDH13		68
18q21.33	rs4940576	BCL2		62
2q36.1	rs13398147	PAX3/EPHA4	Craniofacial-deafness-hand syndrome	62
1p36.32	rs241215	AJAP1		62
17q24.3	rs12946942	SOX9, KCNJ2	Campomelic dysplasia/familial atrial fibrillation	60
11q24.1	rs35333564	MIR4300HG		68
4q21.23	rs141903557	LOC101928978		111
1q21.2	rs11205303	MTMR11		96
1q42.13	rs12029076	ARF1		96
22q11.21	rs1978060	TBX1	Velocardiofacial syndrome	96
12p12.3	rs2467146	LINC02378/MIR3974		96
8p23.2	rs11787412	CSMD1		96
9p13.3	rs188915802	KIF24		96
6q14.1	rs658839	BCKDHB/FAM46A	Osteogenesis imperfecta type XVIII	96
7p15.1	rs160335	CREB5		96
6q22.1	rs482012	NT5DC1		96
7p22.3	rs11341092	LOC101927021/UNCX		96
1q32.2	rs17011903	PLXNA2	Beckwith–Wiedemann syndrome	96
7p21.2	rs397948882	AGMO/MEOX2		96
16q12.2	rs12149832	FTO	Growth retardation, developmental delay, and facial dysmorphism	96

Regions in the human genome providing statistically significant evidence of harboring an AIS risk factor are denoted by their OMIM locus number (column one) where applicable. The markers shown are those that provided most significant evidence in the region