rs147257424
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs147257424(C;T) |
| Make rs147257424(T;T) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 1 |
| Position | 11801299 |
| Gene | MTHFR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs147257424 |
| dbSNP (classic) | rs147257424 |
| ClinGen | rs147257424 |
| ebi | rs147257424 |
| HLI | rs147257424 |
| Exac | rs147257424 |
| Gnomad | rs147257424 |
| Varsome | rs147257424 |
| LitVar | rs147257424 |
| Map | rs147257424 |
| PheGenI | rs147257424 |
| Biobank | rs147257424 |
| 1000 genomes | rs147257424 |
| hgdp | rs147257424 |
| ensembl | rs147257424 |
| geneview | rs147257424 |
| scholar | rs147257424 |
| rs147257424 | |
| pharmgkb | rs147257424 |
| gwascentral | rs147257424 |
| openSNP | rs147257424 |
| 23andMe | rs147257424 |
| SNPshot | rs147257424 |
| SNPdbe | rs147257424 |
| MSV3d | rs147257424 |
| GWAS Ctlg | rs147257424 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs147257424(A;A) rs147257424(T;T) |
| Alt | rs147257424(A;A) rs147257424(T;T) |
| Reference | Rs147257424(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.11861356C>T |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000167592.1, |
