Skip to main content

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

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

Common SNP (MAF ≥ 0.0257) Novel 5 intronic: 4; downstream: 1
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
Known 341 intergenic: 57; intronic: 257; exonic: 4; 3′UTR: 19; 5′UTR: 5; up (down) stream: 3