rs117687681
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs117687681(A;A) |
| Make rs117687681(A;G) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 21 |
| Position | 43060481 |
| Gene | CBS |
| is a | snp |
| is | mentioned by |
| dbSNP | rs117687681 |
| dbSNP (classic) | rs117687681 |
| ClinGen | rs117687681 |
| ebi | rs117687681 |
| HLI | rs117687681 |
| Exac | rs117687681 |
| Gnomad | rs117687681 |
| Varsome | rs117687681 |
| LitVar | rs117687681 |
| Map | rs117687681 |
| PheGenI | rs117687681 |
| Biobank | rs117687681 |
| 1000 genomes | rs117687681 |
| hgdp | rs117687681 |
| ensembl | rs117687681 |
| geneview | rs117687681 |
| scholar | rs117687681 |
| rs117687681 | |
| pharmgkb | rs117687681 |
| gwascentral | rs117687681 |
| openSNP | rs117687681 |
| 23andMe | rs117687681 |
| SNPshot | rs117687681 |
| SNPdbe | rs117687681 |
| MSV3d | rs117687681 |
| GWAS Ctlg | rs117687681 |
| Max Magnitude | 0 |
minor allele should be reclassified as benign according to [PMID 26990548
]
| ClinVar | |
|---|---|
| Risk | rs117687681(A;A) |
| Alt | rs117687681(A;A) |
| Reference | Rs117687681(G;G) |
| Significance | Pathogenic |
| Disease | not provided Homocystinuria due to CBS deficiency Thoracic aortic aneurysm and aortic dissection not specified |
| Variation | info |
| Gene | CBSL CBS |
| CLNDBN | not provided Homocystinuria due to CBS deficiency Thoracic aortic aneurysm and aortic dissection not specified |
| Reversed | 0 |
| HGVS | NC_000021.8:g.44480591G>A |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000199827.3, RCV000231839.2, RCV000242755.2, RCV000377293.1, |
