Table 2. Characteristics of seven SNPs finally selected for our analysis.
N | SNP | Chr | Allele change | Position | SNP source | H-W p value | Reference | MAF# |
---|---|---|---|---|---|---|---|---|
1 | rs3851179 | 11 | G→A | 5′ downstream | GWAS | 0.9485 | [Harold9] [Seshadri10] | 0.3149 |
2 | rs561655 | 11 | A→G | 5′ downstream | GWAS & Meta-analysis | 0.8524 | [Lambert11] [Jun15] | 0.3407 |
3 | rs543293 | 11 | G→A | 5′ downstream | Replication | 0.625 | [Lee15] [Jun36] | 0.2923 |
4 | rs592297 | 11 | T→C | Exon 5 | This SNP is associated with specific PICALM isoform expression level and in strong LD with rs3851179 and is a part of an exonic splice enhancer region in exon 5 | 0.8578 | [Parikh37] [Schnetz38] | 0.2113 |
5 | rs7941541 | 11 | A→G | 5′ downstream | Replication study | 0.7482 | [Lee36] | 0.289 |
6 | rs1237999 | 11 | A→G | 5′ downstream | GWAS | 0.8185 | [Harold9] | 0.3297 |
7 | rs642949 | 11 | T→C | Intron region of NM_001008660.2 | This SNP is in strong LD with rs592997 | 0.4931 | [Furney39] | 0.4459 |
Abbreviation: MAF = Minor Allele Frequency; SNP = Single Nucleotide Polymorphism; H-W = Hardy-Weinberg.
#MAF data was calculated by Haploview 4.2.