rs121964967
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| (A;G) | 3 | Carrier of a homocystinuria mutation |
| Make rs121964967(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 21 |
| Position | 43059299 |
| Gene | CBS |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121964967 |
| dbSNP (classic) | rs121964967 |
| ClinGen | rs121964967 |
| ebi | rs121964967 |
| HLI | rs121964967 |
| Exac | rs121964967 |
| Gnomad | rs121964967 |
| Varsome | rs121964967 |
| LitVar | rs121964967 |
| Map | rs121964967 |
| PheGenI | rs121964967 |
| Biobank | rs121964967 |
| 1000 genomes | rs121964967 |
| hgdp | rs121964967 |
| ensembl | rs121964967 |
| geneview | rs121964967 |
| scholar | rs121964967 |
| rs121964967 | |
| pharmgkb | rs121964967 |
| gwascentral | rs121964967 |
| openSNP | rs121964967 |
| 23andMe | rs121964967 |
| SNPshot | rs121964967 |
| SNPdbe | rs121964967 |
| MSV3d | rs121964967 |
| GWAS Ctlg | rs121964967 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs121964967(G;G) |
| Alt | rs121964967(G;G) |
| Reference | Rs121964967(A;A) |
| Significance | Pathogenic |
| Disease | Homocystinuria |
| Variation | info |
| Gene | CBSL CBS |
| CLNDBN | Homocystinuria, pyridoxine-responsive |
| Reversed | 1 |
| HGVS | NC_000021.8:g.44479409T>C |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000000145.2, |
