rs747846362
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs747846362(A;A) |
| Make rs747846362(A;C) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 1 |
| Position | 11791206 |
| Gene | MTHFR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs747846362 |
| dbSNP (classic) | rs747846362 |
| ClinGen | rs747846362 |
| ebi | rs747846362 |
| HLI | rs747846362 |
| Exac | rs747846362 |
| Gnomad | rs747846362 |
| Varsome | rs747846362 |
| LitVar | rs747846362 |
| Map | rs747846362 |
| PheGenI | rs747846362 |
| Biobank | rs747846362 |
| 1000 genomes | rs747846362 |
| hgdp | rs747846362 |
| ensembl | rs747846362 |
| geneview | rs747846362 |
| scholar | rs747846362 |
| rs747846362 | |
| pharmgkb | rs747846362 |
| gwascentral | rs747846362 |
| openSNP | rs747846362 |
| 23andMe | rs747846362 |
| SNPshot | rs747846362 |
| SNPdbe | rs747846362 |
| MSV3d | rs747846362 |
| GWAS Ctlg | rs747846362 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs747846362(A;A) |
| Alt | rs747846362(A;A) |
| Reference | Rs747846362(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.11851263C>A |
| CLNSRC | |
| CLNACC | RCV000167620.1, |
