rs5742905
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 3.5 | possible miscall in Ancestry V2.0 datasets; otherwise, Mild clinical homocystinuria which is responsive to vitamin B6 |
| (C;T) | 2.5 | possible miscall in Ancestry V2.0 datasets; otherwise, carrier for Mild clinical homocystinuria which is responsive to vitamin B |
| (T;T) | 0 | common in clinvar |
| Reference | GRCh38 38.1/142 |
| Chromosome | 21 |
| Position | 43063074 |
| Gene | CBS |
| is a | snp |
| is | mentioned by |
| dbSNP | rs5742905 |
| dbSNP (classic) | rs5742905 |
| ClinGen | rs5742905 |
| ebi | rs5742905 |
| HLI | rs5742905 |
| Exac | rs5742905 |
| Gnomad | rs5742905 |
| Varsome | rs5742905 |
| LitVar | rs5742905 |
| Map | rs5742905 |
| PheGenI | rs5742905 |
| Biobank | rs5742905 |
| 1000 genomes | rs5742905 |
| hgdp | rs5742905 |
| ensembl | rs5742905 |
| geneview | rs5742905 |
| scholar | rs5742905 |
| rs5742905 | |
| pharmgkb | rs5742905 |
| gwascentral | rs5742905 |
| openSNP | rs5742905 |
| 23andMe | rs5742905 |
| SNPshot | rs5742905 |
| SNPdbe | rs5742905 |
| MSV3d | rs5742905 |
| GWAS Ctlg | rs5742905 |
| Merged from | Rs12329790 |
| Max Magnitude | 3.5 |
Regarding Homocystinuria, the I278T mutation has been associated with B6 responsiveness and a
relatively mild clinical phenotype when homozygous.
Note: as of June 2016, we have noticed that this SNP may be miscalled in Ancestry V2.0 datasets.
FTDNA & MyHeritage name: VG21S23270
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 21567207] Tetra primer ARMS-PCR relates folate/homocysteine pathway genes and ACE gene polymorphism with coronary artery disease
| ClinVar | |
|---|---|
| Risk | Rs5742905(C;C) |
| Alt | Rs5742905(C;C) |
| Reference | Rs5742905(T;T) |
| Significance | Pathogenic |
| Disease | Homocystinuria HYPERHOMOCYSTEINEMIA not provided Homocystinuria due to CBS deficiency Thoracic aortic aneurysm and aortic dissection |
| Variation | info |
| Gene | CBSL CBS |
| CLNDBN | Homocystinuria, pyridoxine-responsive HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED not provided Homocystinuria due to CBS deficiency Thoracic aortic aneurysm and aortic dissection Homocystinuria |
| Reversed | 1 |
| HGVS | NC_000021.8:g.44483184A>G |
| CLNSRC | HGMD OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000000141.4, RCV000000142.4, RCV000078111.6, RCV000173640.4, RCV000249462.1, RCV000379069.1, |
[PMID 19112534
] Lack of association of polymorphisms in homocysteine metabolism genes with pseudoexfoliation syndrome and glaucoma.
[PMID 19330901] Association of 77 polymorphisms in 52 candidate genes with blood pressure progression and incident hypertension: the Women's Genome Health Study.
[PMID 19493349] 118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects.
[PMID 19559392] A candidate gene association study of 77 polymorphisms in migraine.
