| RSID | rs72552343 |
| HGVS | ENSP00000270139.3:p.Pro335del |
| Chromosome | 21 |
| Start position | 34721704 |
| Stop position | 34721704 |
| Associated gene(s) | IFNAR1 |
| Mutation type | InDel |
| Reference | TTCC |
| Alternative | T |
| Associated allele | T |
| Associated African Allele Frequency | 0 |
| Consequence | In frame deletion |
| Other population frequencies link | ALFA rs72552343 |
| Name | Paper | Description of Comparison | Gene | RSID | Association | Disease Status | MAF | Statistical Odds Ratio | Statistical P-value |
|---|---|---|---|---|---|---|---|---|---|
| Zhang_rs72552343 | Inborn errors of type I IFN immunity in patients with life-threatening COVID-19 | Critical COVID vs controls | IFNAR1 | rs72552343 | Positive | Critical | None | None | None |
| Paper |
|---|
| Inborn errors of type I IFN immunity in patients with life-threatening COVID-19 |