rs121918151
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 3 | Carrier of a thrombophilia due to protein C deficiency mutation |
| (T;T) | 9 | Complete protein-C deficiency; severe thrombophilia |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 127428426 |
| Gene | LOC105373608, PROC |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121918151 |
| dbSNP (classic) | rs121918151 |
| ClinGen | rs121918151 |
| ebi | rs121918151 |
| HLI | rs121918151 |
| Exac | rs121918151 |
| Gnomad | rs121918151 |
| Varsome | rs121918151 |
| LitVar | rs121918151 |
| Map | rs121918151 |
| PheGenI | rs121918151 |
| Biobank | rs121918151 |
| 1000 genomes | rs121918151 |
| hgdp | rs121918151 |
| ensembl | rs121918151 |
| geneview | rs121918151 |
| scholar | rs121918151 |
| rs121918151 | |
| pharmgkb | rs121918151 |
| gwascentral | rs121918151 |
| openSNP | rs121918151 |
| 23andMe | rs121918151 |
| SNPshot | rs121918151 |
| SNPdbe | rs121918151 |
| MSV3d | rs121918151 |
| GWAS Ctlg | rs121918151 |
| Max Magnitude | 9 |
aka c.866C>T (p.Pro289Leu)
23andMe name: i5003623
| ClinVar | |
|---|---|
| Risk | Rs121918151(T;T) |
| Alt | Rs121918151(T;T) |
| Reference | Rs121918151(C;C) |
| Significance | Pathogenic |
| Disease | Thrombophilia |
| Variation | info |
| Gene | PROC |
| CLNDBN | Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive |
| Reversed | 0 |
| HGVS | NC_000002.11:g.128186002C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000000702.4, |
