rs201007090
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 5 | Factor XI deficiency |
| (G;G) | 0 | common in clinvar |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 4 |
| Position | 186286490 |
| Gene | F11, F11-AS1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs201007090 |
| dbSNP (classic) | rs201007090 |
| ClinGen | rs201007090 |
| ebi | rs201007090 |
| HLI | rs201007090 |
| Exac | rs201007090 |
| Gnomad | rs201007090 |
| Varsome | rs201007090 |
| LitVar | rs201007090 |
| Map | rs201007090 |
| PheGenI | rs201007090 |
| Biobank | rs201007090 |
| 1000 genomes | rs201007090 |
| hgdp | rs201007090 |
| ensembl | rs201007090 |
| geneview | rs201007090 |
| scholar | rs201007090 |
| rs201007090 | |
| pharmgkb | rs201007090 |
| gwascentral | rs201007090 |
| openSNP | rs201007090 |
| 23andMe | rs201007090 |
| SNPshot | rs201007090 |
| SNPdbe | rs201007090 |
| MSV3d | rs201007090 |
| GWAS Ctlg | rs201007090 |
| Max Magnitude | 5 |
| ClinVar | |
|---|---|
| Risk | Rs201007090(A;A) |
| Alt | Rs201007090(A;A) |
| Reference | Rs201007090(G;G) |
| Significance | Probable-Pathogenic |
| Disease | Hereditary factor XI deficiency disease |
| Variation | info |
| Gene | F11-AS1 F11 |
| CLNDBN | Hereditary factor XI deficiency disease |
| Reversed | 0 |
| HGVS | NC_000004.11:g.187207644G>A |
| CLNSRC | |
| CLNACC | RCV000169241.1, |
