Table 2.
Loss-of-function rare variants found in chronic back pain and multisite pain samples from UK biobank 200k whole-exome sequencing cohort.
| rsid | Chr:Pos | Mutation | Ref | Alt | Consequence | CADD |
|---|---|---|---|---|---|---|
| rs28364172 | 7:123199913 | Arg12Ter | G | A | stop_gained | 34 |
| rs138275989 | 7:123181057 | Trp48Ter | C | T | stop_gained | 36 |
| rs201036744 | 7:123171835 | Glu100Ter | C | A | stop_gained | 38 |
| rs769792098 | 7:123171827 | Trp102Ter | C | T | stop_gained | 38 |
| rs754331818 | 7:123169270 | Ala144LeufsTer4 | GC | G | frameshift | 16 |
| rs752434859 | 7:123128888 | Arg364Ter | G | A | stop_gained | 34 |
| rs1563320610 | 7:123128868 | Pro370LeufsTer23 | AG | A | frameshift | 30 |
Columns show the rsid, chromosome number and position (Chr:Pos), mutation (Mutation), reference allele (Ref), alternative allele (Alt), functional consequence of alternative allele (Consequence), CADD score (CADD, rounded to nearest integer).