Allele frequencies of variants identified in the human CHRNA7 gene
Numbering for exons begins with the A of the ATG start codon as nucleotide +1. Numbering in 5′-UTR and intronic positions is relative either to the 5′ or 3′ boundary of the nearest exon.
Position | Variant | Amino Acid | Allele Frequency | ||
|---|---|---|---|---|---|
| Schizophrenic | Control | ||||
| n (%) | |||||
| 5′-UTR | -194 G→C | 16/200 (8.0) | 21/200 (10.5) | ||
| Exon 7 | 606 C→T | 5/200 (2.5) | 7/200 (3.5) | ||
| Exon 7 | 690 G→A | 18/200 (9.0) | 25/200 (12.5) | ||
| Exon 9 | 933 G→A | 98/200 (49.0) | 99/200 (49.5) | ||
| Exon 10 | 1267 G→A | Gly→Ser | 1/200 (0.5) | 0/200 (0) | |
| Exon 10 | 1269 C→T | 87/200 (43.5) | 85/200 (42.5) | ||
| Intron 6 | IVS6+11 G→A | 49/200 (24.5) | 50/200 (25.0) | ||
| Intron 7 | IVS7+21 C→T | 68/200 (34.0) | 70/200 (35.0) | ||
| Intron 7 | IVS8-20 G→A | 71/200 (35.5) | 73/200 (36.5) | ||
| Intron 8 | IVS8+29 G→C | 1/200 (0.5) | 0/200 (0) | ||
| Intron 9 | IVS9+21 A→G | 14/200 (7.0) | 11/200 (5.5) | ||
| Intron 9 | IVS9+37 G→C | 92/200 (46.0) | 94/200 (47.0) | ||
| Intron 9 | IVS9+87 C→T |
| 94/200 (47.0) | 94/200 (47.0) | |
UTR, untranslated region; IVS, intronic variant sequence.