Table 1 Variants found in ATP11B in SVD patients and healthy controls
From: Genetic analysis of the ATP11B gene in Chinese Han population with cerebral small vessel disease
Position at chr3 | SNP | cDNA | Functional change | minor allele frequency | SVD vs Controls | ||
|---|---|---|---|---|---|---|---|
SVD (524) | Controls (550) | OR (95% CI) | P | ||||
182563253 | NA | c.712G > T | p. G238W | 0.095% | 0 | NA | 0.305 |
182583365 | rs186142123 | c.1322C > T | p. P441L | 0.095% | 0 | NA | 0.305 |
182587011 | NA | c.1763-5 T > - | NA | 0.095% | 0 | NA | 0.305 |
182607215 | rs143776237 | c.2861G > A | p. R954H | 0.859% | 0.273% | 3.167(0.855–11.732) | 0.069 |
182615205 | rs201924008 | c.3152 + 11A > G | NA | 0.286% | 0.091% | 3.155(0.328–30.379) | 0.294 |
182616549 | rs138771155 | c.3307G > A | p. E1103K | 0.382% | 0.091% | 4.211(0.470–37.735) | 0.162 |
182631645 | rs773539019 | c.3319-4G > T | NA | 0.191% | 0 | NA | 0.147 |