Identification of candidate protective variants for common diseases and evaluation of their protective potential

BMC Genomics

Table 1 Non-synonymous SNPs associated with AMD validated by meta-analysis

Position	Locus	nsSNP		Derived allele	Meta-analysis validation
chr1: 196,659,237	CFH	rs1061170:T > C	Y402H	risk	[29]
chr1: 196,642,233	CFH	rs800292:A > G	I62V	risk	[30]
chr6: 31,903,804	C2	rs9332739:G > C	E318D	protective	[22]
chr6: 31,914,180	CFB	rs641153:C > T	R32Q	protective	[22]
chr10: 124,214,448	ARMS2	rs10490924:G > T	A69S	risk	[31]
chr19: 6,718,387	C3	rs2230199:C > G	R102G	risk	[32]
chr19: 45,411,941	APOE	rs429358:T > C	C112R	risk	[33]
chr19: 45,412,079	APOE	rs7412:C > T	R158C	risk	[33]

ISSN: 1471-2164