rs368074804
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 5 | Partial protein-S deficiency; higher risk for blood clotting related issues |
| Make rs368074804(T;T) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 3 |
| Position | 93898570 |
| Gene | PROS1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs368074804 |
| dbSNP (classic) | rs368074804 |
| ClinGen | rs368074804 |
| ebi | rs368074804 |
| HLI | rs368074804 |
| Exac | rs368074804 |
| Gnomad | rs368074804 |
| Varsome | rs368074804 |
| LitVar | rs368074804 |
| Map | rs368074804 |
| PheGenI | rs368074804 |
| Biobank | rs368074804 |
| 1000 genomes | rs368074804 |
| hgdp | rs368074804 |
| ensembl | rs368074804 |
| geneview | rs368074804 |
| scholar | rs368074804 |
| rs368074804 | |
| pharmgkb | rs368074804 |
| gwascentral | rs368074804 |
| openSNP | rs368074804 |
| 23andMe | rs368074804 |
| SNPshot | rs368074804 |
| SNPdbe | rs368074804 |
| MSV3d | rs368074804 |
| GWAS Ctlg | rs368074804 |
| Max Magnitude | 5 |
aka c.728-1G>A
| ClinVar | |
|---|---|
| Risk | rs368074804(A;A) rs368074804(T;T) |
| Alt | rs368074804(A;A) rs368074804(T;T) |
| Reference | Rs368074804(C;C) |
| Significance | Probable-Pathogenic |
| Disease | Protein S deficiency |
| Variation | info |
| Gene | PROS1 |
| CLNDBN | Protein S deficiency |
| Reversed | 0 |
| HGVS | NC_000003.11:g.93617414C>T |
| CLNSRC | |
| CLNACC | RCV000149896.2, |
