rs574132670
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs574132670(C;T) |
| Make rs574132670(T;T) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 1 |
| Position | 11800250 |
| Gene | MTHFR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs574132670 |
| dbSNP (classic) | rs574132670 |
| ClinGen | rs574132670 |
| ebi | rs574132670 |
| HLI | rs574132670 |
| Exac | rs574132670 |
| Gnomad | rs574132670 |
| Varsome | rs574132670 |
| LitVar | rs574132670 |
| Map | rs574132670 |
| PheGenI | rs574132670 |
| Biobank | rs574132670 |
| 1000 genomes | rs574132670 |
| hgdp | rs574132670 |
| ensembl | rs574132670 |
| geneview | rs574132670 |
| scholar | rs574132670 |
| rs574132670 | |
| pharmgkb | rs574132670 |
| gwascentral | rs574132670 |
| openSNP | rs574132670 |
| 23andMe | rs574132670 |
| SNPshot | rs574132670 |
| SNPdbe | rs574132670 |
| MSV3d | rs574132670 |
| GWAS Ctlg | rs574132670 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs574132670(T;T) |
| Alt | rs574132670(T;T) |
| Reference | Rs574132670(C;C) |
| Significance | Pathogenic |
| Disease | Homocysteinemia due to MTHFR deficiency |
| Variation | info |
| Gene | MTHFR |
| CLNDBN | Homocysteinemia due to MTHFR deficiency |
| Reversed | 0 |
| HGVS | NC_000001.10:g.11860307C>T |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000167596.1, |
