rs373398993
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs373398993(A;T) |
| Make rs373398993(T;T) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 1 |
| Position | 11796219 |
| Gene | MTHFR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs373398993 |
| dbSNP (classic) | rs373398993 |
| ClinGen | rs373398993 |
| ebi | rs373398993 |
| HLI | rs373398993 |
| Exac | rs373398993 |
| Gnomad | rs373398993 |
| Varsome | rs373398993 |
| LitVar | rs373398993 |
| Map | rs373398993 |
| PheGenI | rs373398993 |
| Biobank | rs373398993 |
| 1000 genomes | rs373398993 |
| hgdp | rs373398993 |
| ensembl | rs373398993 |
| geneview | rs373398993 |
| scholar | rs373398993 |
| rs373398993 | |
| pharmgkb | rs373398993 |
| gwascentral | rs373398993 |
| openSNP | rs373398993 |
| 23andMe | rs373398993 |
| SNPshot | rs373398993 |
| SNPdbe | rs373398993 |
| MSV3d | rs373398993 |
| GWAS Ctlg | rs373398993 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs373398993(T;T) |
| Alt | rs373398993(T;T) |
| Reference | Rs373398993(A;A) |
| 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.11856276A>T |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000167603.1, |
