Integration of bioinformatics and imaging informatics for identifying rare PSEN1 variants in Alzheimer’s disease

Table 2 Single nucleotide polymorphisms (SNP) within PSEN1 ± 10 kilobase (kb)

Common SNP (MAF ≥ 0.0257)	Novel	5	intronic: 4; downstream: 1
Common SNP (MAF ≥ 0.0257)	Known	181	intergenic: 35; intronic: 141; 3′ UTR: 7; up (down) stream: 3
Rare SNP (MAF < 0.0257)	Novel	498	intergenic: 99; intronic: 372; exonic: 2; 3′ UTR: 15; 5′ UTR: 1; up (down) stream: 9
Rare SNP (MAF < 0.0257)	Known	341	intergenic: 57; intronic: 257; exonic: 4; 3′UTR: 19; 5′UTR: 5; up (down) stream: 3

ISSN: 1755-8794