Table 3. SCLS associated SNPs detected by both exome sequencing and SNP array.
| SNP | Gene | Chromosome | bp* | location | Minor allele (case frequency) | OR (95% CI) | P value** |
|---|---|---|---|---|---|---|---|
| rs386915 |
SERPINB1 |
6 |
2834265 |
intron |
C (0.125) |
0.16 (0.04–0.63) |
5.2 × 10−3 |
| rs228274 |
PSMB3 |
17 |
36909061 |
5UTR# |
A (0.083) |
0.161 (0.03–0.79) |
0.015 |
| rs1569767 |
SLC24A3 |
20 |
19261623 |
exon (V55I) |
A (0.583) |
3.64 (1.22- 10.8) |
0.018 |
| rs10883439 |
CPN1 |
10 |
101841153 |
intron |
A (0.208) |
9.21 (1–84.7) |
0.022 |
| rs1614065 |
MYOF |
10 |
95097537 |
intron |
T (0.167) |
0.25 (0.07–0.88) |
0.025 |
| rs3752135 |
SIGLEC12 |
19 |
52000624 |
exon (Y376S) |
T (0.25) |
5.67 (1.03–31) |
0.03 |
| rs4799570 |
DSG4 |
18 |
28986333 |
exon (I644L) |
A (0.375) |
3.72 (1.06–13.05) |
0.034 |
| rs2274611 |
CTSL1 |
9 |
90342675 |
intron |
T (0.667) |
3.14 (1.07–9.27) |
0.035 |
| rs12185460 | ARHGAP28 | 18 | 6898415 | intron | C (0.292) | 0.329 (0.11–0.99) | 0.044 |
*
GRCh37.p5 assemby; **Chi-square test; #5′ untranslated region