rs1064793350
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 4.1 | Hereditary angioedema |
| Make rs1064793350(T;T) |
| Chromosome | 11 |
| Position | 57600339 |
| Gene | SERPING1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1064793350 |
| dbSNP (classic) | rs1064793350 |
| ClinGen | rs1064793350 |
| ebi | rs1064793350 |
| HLI | rs1064793350 |
| Exac | rs1064793350 |
| Gnomad | rs1064793350 |
| Varsome | rs1064793350 |
| LitVar | rs1064793350 |
| Map | rs1064793350 |
| PheGenI | rs1064793350 |
| Biobank | rs1064793350 |
| 1000 genomes | rs1064793350 |
| hgdp | rs1064793350 |
| ensembl | rs1064793350 |
| geneview | rs1064793350 |
| scholar | rs1064793350 |
| rs1064793350 | |
| pharmgkb | rs1064793350 |
| gwascentral | rs1064793350 |
| openSNP | rs1064793350 |
| 23andMe | rs1064793350 |
| SNPshot | rs1064793350 |
| SNPdbe | rs1064793350 |
| MSV3d | rs1064793350 |
| GWAS Ctlg | rs1064793350 |
| Max Magnitude | 4.1 |
NM_000062.2(SERPING1):c.512C>T (p.Pro171Leu)
23andMe name for c.512C>A: i6018350
| ClinVar | |
|---|---|
| Risk | rs1064793350(T;T) |
| Alt | rs1064793350(T;T) |
| Reference | Rs1064793350(C;C) |
| Significance | Probable-Pathogenic |
| Disease | not provided |
| Variation | info |
| Gene | SERPING1 |
| CLNDBN | not provided |
| Reversed | 0 |
| HGVS | NC_000011.9:g.57367812C>T |
| CLNSRC | |
| CLNACC | RCV000485353.1, |
