rs373297713
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 5 | Factor XI deficiency |
| (A;G) | 3 | carrier of factor XI mutation |
| (G;G) | 0 | common/normal |
| Reference | GRCh38 38.1/142 |
| Chromosome | 4 |
| Position | 186287824 |
| Gene | F11, F11-AS1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs373297713 |
| dbSNP (classic) | rs373297713 |
| ClinGen | rs373297713 |
| ebi | rs373297713 |
| HLI | rs373297713 |
| Exac | rs373297713 |
| Gnomad | rs373297713 |
| Varsome | rs373297713 |
| LitVar | rs373297713 |
| Map | rs373297713 |
| PheGenI | rs373297713 |
| Biobank | rs373297713 |
| 1000 genomes | rs373297713 |
| hgdp | rs373297713 |
| ensembl | rs373297713 |
| geneview | rs373297713 |
| scholar | rs373297713 |
| rs373297713 | |
| pharmgkb | rs373297713 |
| gwascentral | rs373297713 |
| openSNP | rs373297713 |
| 23andMe | rs373297713 |
| SNPshot | rs373297713 |
| SNPdbe | rs373297713 |
| MSV3d | rs373297713 |
| GWAS Ctlg | rs373297713 |
| Max Magnitude | 5 |
rs373297713, better known as c.1716+1G>A or IVS14DS, G-A, +1, is a SNP in the coagulation factor XI F11 gene.
This SNP is reported by 23andMe as one of the three most common factor XI deficiency-causing mutations found in Ashkenazi Jews; it is termed i4000397 by 23andMe.
See OMIM 264900.0001
| ClinVar | |
|---|---|
| Risk | Rs373297713(A;A) |
| Alt | Rs373297713(A;A) |
| Reference | Rs373297713(G;G) |
| Significance | 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.187208978G>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000012665.25, |
