RSID | rs199550479 |
HGVS | ENSP00000471896.1:p.Asn146Lys |
Chromosome | 19 |
Start position | 50165845 |
Stop position | 50165845 |
Associated gene(s) | IRF3 |
Mutation type | SNP |
Reference | G |
Alternative | C |
Associated allele | C |
Associated African Allele Frequency | 0 |
Consequence | Missense Variant |
Other population frequencies link | ALFA rs199550479 |
Name | Paper | Description of Comparison | Gene | RSID | Association | Disease Status | MAF | Statistical Odds Ratio | Statistical P-value |
---|---|---|---|---|---|---|---|---|---|
Zhang_rs199550479 | Inborn errors of type I IFN immunity in patients with life-threatening COVID-19 | Critical COVID vs controls | IRF3 | rs199550479 | Positive | Critical | None | None | None |
Paper |
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Inborn errors of type I IFN immunity in patients with life-threatening COVID-19 |