rs978962357
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;T) | 4.1 | Hereditary angioedema |
| (T;T) | 0 | common in clinvar |
| Make rs978962357(C;C) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 11 |
| Position | 57614553 |
| Gene | SERPING1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs978962357 |
| dbSNP (classic) | rs978962357 |
| ClinGen | rs978962357 |
| ebi | rs978962357 |
| HLI | rs978962357 |
| Exac | rs978962357 |
| Gnomad | rs978962357 |
| Varsome | rs978962357 |
| LitVar | rs978962357 |
| Map | rs978962357 |
| PheGenI | rs978962357 |
| Biobank | rs978962357 |
| 1000 genomes | rs978962357 |
| hgdp | rs978962357 |
| ensembl | rs978962357 |
| geneview | rs978962357 |
| scholar | rs978962357 |
| rs978962357 | |
| pharmgkb | rs978962357 |
| gwascentral | rs978962357 |
| openSNP | rs978962357 |
| 23andMe | rs978962357 |
| SNPshot | rs978962357 |
| SNPdbe | rs978962357 |
| MSV3d | rs978962357 |
| GWAS Ctlg | rs978962357 |
| Max Magnitude | 4.1 |
NM_000062.2(SERPING1):c.1475T>C (p.Met492Thr)
23andMe name for c.1475T>A: i6018333
| ClinVar | |
|---|---|
| Risk | rs978962357(C;C) |
| Alt | rs978962357(C;C) |
| Reference | Rs978962357(T;T) |
| Significance | Probable-Pathogenic |
| Disease | Angioedema |
| Variation | info |
| Gene | |
| CLNDBN | Angioedema |
| Reversed | 0 |
| HGVS | NC_000011.9:g.57382026T>C |
| CLNSRC | |
| CLNACC | RCV000490705.1, |
