Tag
Hereditary Angioedema
5 genetic variants with this tag.
| RSID | Gene | Description | Category | ||
|---|---|---|---|---|---|
| rs1064793792 | SERPING1 | Frameshift deletion in SERPING1 eliminating C1-inhibitor function — causes he... | B-Cell Immunity & Antibody-Mediated Disease | Established | |
| rs1064793917 | SERPING1 | Frameshift deletion in SERPING1 (p.Lys390fs) abolishing C1-inhibitor producti... | B-Cell Immunity & Antibody-Mediated Disease | Established | |
| rs201363394 | SERPING1 Arg400Cys | Pathogenic missense variant in SERPING1 encoding C1-inhibitor; the Arg400Cys ... | B-Cell Immunity & Antibody-Mediated Disease | Established | |
| rs28362944 | SERPING1 | 5' UTR variant in C1-inhibitor gene that promotes partial exon 2 skipping, re... | Hormones & Sleep | Moderate | |
| rs4926 | SERPING1 Val480Met | Missense variant in C1-inhibitor gene associated with insomnia risk through n... | Hormones & Sleep | Moderate |