Table 2.
Gene | Sequence Variant (Base Pair) | Amino Acid Change | Controls (N = 245) [No. (%)] | Cases (N = 113) [No. (%)] |
---|---|---|---|---|
MSR1 | 171 C>T | Y57Y | — | 1 |
IVS2-10 A>G | None | 5 (2%) | 3 (3%) | |
IVS7+35 G>A | None | — | 2 (2%) | |
RNASEL | 147_159dupCAAT | V51QfsX2 | 2 (1%) | — |
1078 A>G | K360E | 1 (1%) | — | |
1260 C>T | F420F | 1 (1%) | — | |
IVS1+59 A>G | 4 (2%) | 3 (3%) | ||
IVS4+77 T>C | 3 (1%) | 1 (1%) | ||
IVS5-27 T>C | 2 (1%) | — | ||
3′UTR2272 G>A | 1 (1%) | 1 |
Deviates significantly from HWE (P <0.05) None deviate from HWE.