rs773734233
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 3 | Carrier of a homocystinuria mutation |
| Make rs773734233(T;T) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 21 |
| Position | 43065239 |
| Gene | CBS |
| is a | snp |
| is | mentioned by |
| dbSNP | rs773734233 |
| dbSNP (classic) | rs773734233 |
| ClinGen | rs773734233 |
| ebi | rs773734233 |
| HLI | rs773734233 |
| Exac | rs773734233 |
| Gnomad | rs773734233 |
| Varsome | rs773734233 |
| LitVar | rs773734233 |
| Map | rs773734233 |
| PheGenI | rs773734233 |
| Biobank | rs773734233 |
| 1000 genomes | rs773734233 |
| hgdp | rs773734233 |
| ensembl | rs773734233 |
| geneview | rs773734233 |
| scholar | rs773734233 |
| rs773734233 | |
| pharmgkb | rs773734233 |
| gwascentral | rs773734233 |
| openSNP | rs773734233 |
| 23andMe | rs773734233 |
| SNPshot | rs773734233 |
| SNPdbe | rs773734233 |
| MSV3d | rs773734233 |
| GWAS Ctlg | rs773734233 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs773734233(T;T) |
| Alt | rs773734233(T;T) |
| Reference | Rs773734233(C;C) |
| Significance | Pathogenic |
| Disease | not provided |
| Variation | info |
| Gene | CBSL CBS |
| CLNDBN | not provided |
| Reversed | 0 |
| HGVS | NC_000021.8:g.44485349C>T |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000199941.2, |
