Table 2. .

Association Testing of SNPs Located in the COL5A1 Gene Associated in GWAS Discovery Cohort*

SNP	Gene Location	Chromosomal Position	MA	Discovery				Replication, Case–Control				Replication, Family				Meta-Analysis
				F_A	F_U	OR	P	F_A	F_U	OR	P	F_A	F_U	OR	P	OR	P	P_A†
rs3118516	5′ to COL5A1	136,579,612	A	0.39	0.28	1.37	0.01	0.42	0.36	1.29	0.02	0.36	0.31	1.26	0.23	1.31	3.6E-4	0.02
rs1536482	5′ to COL5A1	136,580,348	A	0.41	0.33	1.32	6.5E-3	0.42	0.36	1.28	0.02	0.37	0.31	1.27	0.20	1.30	1.5E-4	6.5E-3
rs3118520	5′ to COL5A1	136,581,415	G	0.47	0.37	1.31	0.03	0.48	0.41	1.31	0.009	0.44	0.37	1.33	0.11	1.31	2.0E-4	8.6E-3
rs7044529	COL5A1	136,707,872	T	0.17	0.14	1.44	7.4E-3	0.16	0.15	1.02	0.92	0.22	0.12	1.96	0.03	1.39	2.9E-3	0.12

^*P value < 0.05 in replication case–control and family cohorts and by meta-analysis.

^†Bonferroni-corrected P values.