rs183643295
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs183643295(C;G) |
| Make rs183643295(G;G) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 5 |
| Position | 177404082 |
| Gene | F12, SLC34A1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs183643295 |
| dbSNP (classic) | rs183643295 |
| ClinGen | rs183643295 |
| ebi | rs183643295 |
| HLI | rs183643295 |
| Exac | rs183643295 |
| Gnomad | rs183643295 |
| Varsome | rs183643295 |
| LitVar | rs183643295 |
| Map | rs183643295 |
| PheGenI | rs183643295 |
| Biobank | rs183643295 |
| 1000 genomes | rs183643295 |
| hgdp | rs183643295 |
| ensembl | rs183643295 |
| geneview | rs183643295 |
| scholar | rs183643295 |
| rs183643295 | |
| pharmgkb | rs183643295 |
| gwascentral | rs183643295 |
| openSNP | rs183643295 |
| 23andMe | rs183643295 |
| SNPshot | rs183643295 |
| SNPdbe | rs183643295 |
| MSV3d | rs183643295 |
| GWAS Ctlg | rs183643295 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs183643295(G;G) |
| Alt | rs183643295(G;G) |
| Reference | Rs183643295(C;C) |
| Significance | Probable-Pathogenic |
| Disease | Reduced factor XII activity Factor XII deficiency disease |
| Variation | info |
| Gene | F12 |
| CLNDBN | Reduced factor XII activity Factor XII deficiency disease |
| Reversed | 0 |
| HGVS | NC_000005.9:g.176831083C>G |
| CLNSRC | |
| CLNACC | RCV000363246.1, RCV000490384.1, |
