rs1057516777
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 0 | common in clinvar |
| (-;G) | 3 | carrier of factor XI mutation |
| (G;G) | 5 | Factor XI deficiency |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 4 |
| Position | 186286494 |
| Gene | F11, F11-AS1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1057516777 |
| dbSNP (classic) | rs1057516777 |
| ClinGen | rs1057516777 |
| ebi | rs1057516777 |
| HLI | rs1057516777 |
| Exac | rs1057516777 |
| Gnomad | rs1057516777 |
| Varsome | rs1057516777 |
| LitVar | rs1057516777 |
| Map | rs1057516777 |
| PheGenI | rs1057516777 |
| Biobank | rs1057516777 |
| 1000 genomes | rs1057516777 |
| hgdp | rs1057516777 |
| ensembl | rs1057516777 |
| geneview | rs1057516777 |
| scholar | rs1057516777 |
| rs1057516777 | |
| pharmgkb | rs1057516777 |
| gwascentral | rs1057516777 |
| openSNP | rs1057516777 |
| 23andMe | rs1057516777 |
| SNPshot | rs1057516777 |
| SNPdbe | rs1057516777 |
| MSV3d | rs1057516777 |
| GWAS Ctlg | rs1057516777 |
| Max Magnitude | 5 |
| ClinVar | |
|---|---|
| Risk | Rs1057516777(G;G) |
| Alt | Rs1057516777(G;G) |
| Reference | Rs1057516777(-;-) |
| 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.187207648dupG |
| CLNSRC | |
| CLNACC | RCV000409880.1, |
