SNP | SNP ID1 (dbSNP ID) | Protein change | Location | Series (No.) | MAF2 | Common homozygote No. (expected)3 | Heterozygote No. (expected)3 | Rare homozygote No. (expected)3 | HWE p-value | OR (95% CI)4 | Reported MAF in Caucasian |
---|---|---|---|---|---|---|---|---|---|---|---|
1 | c.102G/A | p.Leu34Leu | Exon 2 | Cases (97) | 0.284 | 52 (49.80) | 35 (39.41) | 10 (7.80) | 0.27 | 0.7 | 0.283–0.4505 |
 | (rs1063045) |  |  | Controls (71) | 0.310 | 33 (33.82) | 32 (30.37) | 6 (6.82) | 0.65 | (0.4–1.3) |  |
2 | c.283G/A | p.Asp95Asn | Exon 3 | Cases (97) | 0.005 | 96 (96.00) | 1 (0.99) | 0 (0) | 0.96 | 0.7 | Â |
 | (NA)6 |  |  | Controls (71) | 0.007 | 70 (70.00) | 1 (0.99) | 0 (0) | 0.95 | (0.0–11.9) |  |
3 | c.381T/C | p.Ala127Ala | Exon 4 | Cases (97) | 0.005 | 96 (96.00) | 1 (0.99) | 0 (0) | 0.96 | 2.3 | Â |
 | (NA) |  |  | Controls (72) | 0.000 | 72 (72.00) | 0 (0) | 0 (0) | 1.00 | (0.1–56.1) |  |
4 | c.511A/G | p.Ile171Val | Exon 5 | Cases (97) | 0.005 | 96 (96.00) | 1 (0.99) | 0 (0) | 0.96 | 2.3 | Â |
 | (NA)6 |  |  | Controls (73) | 0.000 | 73 (73.00) | 0 (0) | 0 (0) | 1.00 | (0.1–57.0) |  |
5 | c.553G/C | p.Glu185Gln | Exon 5 | Cases (97) | 0.268 | 54 (51.97) | 34 (38.06) | 9 (6.97) | 0.29 | 0.6 | Â |
 | (rs1805794) |  |  | Controls (73) | 0.308 | 34 (34.93) | 33 (31.13) | 6 (6.93) | 0.61 | (0.3–1.2) |  |
6 | c.643C/T | p.Arg215Trp | Exon 6 | Cases (97) | 0.005 | 96 (96.00) | 1 (0.99) | 0 (0) | 0.96 | 0.8 | Â |
 | (rs34767364) |  |  | Controls (73) | 0.007 | 72 (72.00) | 1 (0.99) | 0 (0) | 0.95 | (0.0–12.2) |  |
7 | c.797C/T | p.Pro266Leu | Exon 7 | Cases (97) | 0.005 | 96 (96.00) | 1 (0.99) | 0 (0) | 0.96 | 2.3 | 0.0005 |
 | (rs769420) |  |  | Controls (73) | 0.000 | 73 (73.00) | 0 (0) | 0 (0) | 1.00 | (0.1–57.0) |  |
8 | c.1197T/C | p.Asp399Asp | Exon 10 | Cases (97) | 0.320 | 47 (44.91) | 38 (42.19) | 12 (9.91) | 0.33 | 0.9 | 0.28–0.455 |
 | (rs709816) |  |  | Controls (72) | 0.313 | 34 (34.03) | 31 (30.94) | 7 (7.03) | 0.99 | (0.5–1.7) |  |
9 | c.2016A/G | p.Pro672Pro | Exon 13 | Cases (97) | 0.284 | 52 (49.80) | 35 (39.41) | 10 (7.80) | 0.27 | 0.8 | 0.2835 |
 | (rs1061302) |  |  | Controls (70) | 0.300 | 34 (34.30) | 30 (29.40) | 6 (6.30) | 0.86 | (0.4–2.2) |  |