Functional relevance for central cornea thickness-associated genetic variants by using integrative analyses

Table 1 List of prioritized putative regulatory SNPs

Variant	Chr	Position	LD (r²)	Lead SNP	Ref	Alt	CADD	GWAVA	Eigen-PC	Genes
rs2307121	5	65,329,685	1	rs2307121	C	T	15.53	0.57	1.76	ADAMTS6
rs2393729	10	62,077,257	0.98	rs7090871	C	T	13.08	0.41	2.05	ARID5B
rs2721051	13	40,536,747	1	rs2721051	C	T	11.62	0.58	0.65	FOXO1
rs4843047	15	85,316,545	0.83	rs6496932	G	A	10.22	0.43	0.67	AKAP13
rs57817160	2	227,314,522	0.92	rs7606754	G	A	16.96	0.69	0.91	COL4A3
rs59257065	2	227,314,612	0.91	rs7606754	C	T	15.72	0.64	0.91	COL4A3
rs6443477	3	177,590,145	0.99	rs7620503	A	C	14.6	0.57	1.70	TBL1XR1, KCMB2
rs6693322	1	36,099,761	0.8	rs96067	T	C	10.78	0.49	1.26	COL8A2
rs6769466	3	177,590,226	0.99	rs7620503	G	A	15.53	0.55	1.72	TBL1XR1, KCMB2
rs6862857	5	65,334,310	1	rs2307121	G	C	13.57	0.58	1.54	ADAMTS6

Position (hg19). Ref: Reference allele. Alt: Alternative allele. Cutoff: CADD≥10, GWAVA ≥0.4 and Eigen-PC≥ 0

ISSN: 1756-0381