rs121909547
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 7 | Venous thromboembolism association/risk |
| Make rs121909547(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 173914726 |
| Gene | SERPINC1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121909547 |
| dbSNP (classic) | rs121909547 |
| ClinGen | rs121909547 |
| ebi | rs121909547 |
| HLI | rs121909547 |
| Exac | rs121909547 |
| Gnomad | rs121909547 |
| Varsome | rs121909547 |
| LitVar | rs121909547 |
| Map | rs121909547 |
| PheGenI | rs121909547 |
| Biobank | rs121909547 |
| 1000 genomes | rs121909547 |
| hgdp | rs121909547 |
| ensembl | rs121909547 |
| geneview | rs121909547 |
| scholar | rs121909547 |
| rs121909547 | |
| pharmgkb | rs121909547 |
| gwascentral | rs121909547 |
| openSNP | rs121909547 |
| 23andMe | rs121909547 |
| SNPshot | rs121909547 |
| SNPdbe | rs121909547 |
| MSV3d | rs121909547 |
| GWAS Ctlg | rs121909547 |
| Merged from | Rs121909553 |
| Max Magnitude | 7 |
aka c.235C>T (p.Arg79Cys or R79C); also c.235C>A (p.Arg79Ser or R79S)
The Arg79Cys mutation was reported to be relatively prevalent among Korean venous thromboembolism patients screened for thrombophilia[PMID .24162787
]
| ClinVar | |
|---|---|
| Risk | rs121909547(A;A) rs121909547(T;T) |
| Alt | rs121909547(A;A) rs121909547(T;T) |
| Reference | Rs121909547(C;C) |
| Significance | Pathogenic |
| Disease | Antithrombin III deficiency |
| Variation | info |
| Gene | SERPINC1 |
| CLNDBN | Antithrombin III deficiency |
| Reversed | 1 |
| HGVS | NC_000001.10:g.173883864G>A; NC_000001.10:g.173883864G>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000019620.24, RCV000019631.27, |
