rs281875170
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 4.1 | Hereditary angioedema |
| (G;G) | 0 | common in clinvar |
| Make rs281875170(A;A) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 11 |
| Position | 57600377 |
| Gene | SERPING1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs281875170 |
| dbSNP (classic) | rs281875170 |
| ClinGen | rs281875170 |
| ebi | rs281875170 |
| HLI | rs281875170 |
| Exac | rs281875170 |
| Gnomad | rs281875170 |
| Varsome | rs281875170 |
| LitVar | rs281875170 |
| Map | rs281875170 |
| PheGenI | rs281875170 |
| Biobank | rs281875170 |
| 1000 genomes | rs281875170 |
| hgdp | rs281875170 |
| ensembl | rs281875170 |
| geneview | rs281875170 |
| scholar | rs281875170 |
| rs281875170 | |
| pharmgkb | rs281875170 |
| gwascentral | rs281875170 |
| openSNP | rs281875170 |
| 23andMe | rs281875170 |
| SNPshot | rs281875170 |
| SNPdbe | rs281875170 |
| MSV3d | rs281875170 |
| GWAS Ctlg | rs281875170 |
| Max Magnitude | 4.1 |
NM_000062.2(SERPING1):c.550G>A (p.Gly184Arg)
23andMe name: i6018380
| ClinVar | |
|---|---|
| Risk | rs281875170(A;A) |
| Alt | rs281875170(A;A) |
| Reference | Rs281875170(G;G) |
| Significance | Probable-Pathogenic |
| Disease | not provided |
| Variation | info |
| Gene | SERPING1 |
| CLNDBN | not provided |
| Reversed | 0 |
| HGVS | NC_000011.9:g.57367850G>A |
| CLNSRC | UniProtKB (variants) |
| CLNACC | RCV000059091.1, |
