rs199469472
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs199469472(G;T) |
| Make rs199469472(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 127428818 |
| Gene | LOC105373608, PROC |
| is a | snp |
| is | mentioned by |
| dbSNP | rs199469472 |
| dbSNP (classic) | rs199469472 |
| ClinGen | rs199469472 |
| ebi | rs199469472 |
| HLI | rs199469472 |
| Exac | rs199469472 |
| Gnomad | rs199469472 |
| Varsome | rs199469472 |
| LitVar | rs199469472 |
| Map | rs199469472 |
| PheGenI | rs199469472 |
| Biobank | rs199469472 |
| 1000 genomes | rs199469472 |
| hgdp | rs199469472 |
| ensembl | rs199469472 |
| geneview | rs199469472 |
| scholar | rs199469472 |
| rs199469472 | |
| pharmgkb | rs199469472 |
| gwascentral | rs199469472 |
| openSNP | rs199469472 |
| 23andMe | rs199469472 |
| SNPshot | rs199469472 |
| SNPdbe | rs199469472 |
| MSV3d | rs199469472 |
| GWAS Ctlg | rs199469472 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs199469472(T;T) |
| Alt | rs199469472(T;T) |
| Reference | Rs199469472(G;G) |
| Significance | Probable-Pathogenic |
| Disease | Thrombophilia |
| Variation | info |
| Gene | PROC |
| CLNDBN | Thrombophilia, hereditary, due to protein c deficiency, autosomal dominant |
| Reversed | 0 |
| HGVS | NC_000002.11:g.128186394G>T |
| CLNSRC | |
| CLNACC | |
