rs6122
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 5 | Partial protein-S deficiency; higher risk for blood clotting related issues |
| (T;T) | 0 | common genotype |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 3 |
| Position | 93927251 |
| Gene | PROS1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs6122 |
| dbSNP (classic) | rs6122 |
| ClinGen | rs6122 |
| ebi | rs6122 |
| HLI | rs6122 |
| Exac | rs6122 |
| Gnomad | rs6122 |
| Varsome | rs6122 |
| LitVar | rs6122 |
| Map | rs6122 |
| PheGenI | rs6122 |
| Biobank | rs6122 |
| 1000 genomes | rs6122 |
| hgdp | rs6122 |
| ensembl | rs6122 |
| geneview | rs6122 |
| scholar | rs6122 |
| rs6122 | |
| pharmgkb | rs6122 |
| gwascentral | rs6122 |
| openSNP | rs6122 |
| 23andMe | rs6122 |
| SNPshot | rs6122 |
| SNPdbe | rs6122 |
| MSV3d | rs6122 |
| GWAS Ctlg | rs6122 |
| Max Magnitude | 5 |
aka c.233C>T (p.Thr78Met)
| ClinVar | |
|---|---|
| Risk | Rs6122(T;T) |
| Alt | Rs6122(T;T) |
| Reference | Rs6122(C;C) |
| Significance | Probable-Pathogenic |
| Disease | Thrombophilia due to protein S deficiency |
| Variation | info |
| Gene | PROS1 |
| CLNDBN | Thrombophilia due to protein S deficiency, autosomal recessive |
| Reversed | 1 |
| HGVS | NC_000003.11:g.93646095G>A |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000197958.1, |
