rs45590836
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| Make rs45590836(A;A) |
| Make rs45590836(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 11791216 |
| Gene | MTHFR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs45590836 |
| dbSNP (classic) | rs45590836 |
| ClinGen | rs45590836 |
| ebi | rs45590836 |
| HLI | rs45590836 |
| Exac | rs45590836 |
| Gnomad | rs45590836 |
| Varsome | rs45590836 |
| LitVar | rs45590836 |
| Map | rs45590836 |
| PheGenI | rs45590836 |
| Biobank | rs45590836 |
| 1000 genomes | rs45590836 |
| hgdp | rs45590836 |
| ensembl | rs45590836 |
| geneview | rs45590836 |
| scholar | rs45590836 |
| rs45590836 | |
| pharmgkb | rs45590836 |
| gwascentral | rs45590836 |
| openSNP | rs45590836 |
| 23andMe | rs45590836 |
| SNPshot | rs45590836 |
| SNPdbe | rs45590836 |
| MSV3d | rs45590836 |
| GWAS Ctlg | rs45590836 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs45590836(A;A) |
| Alt | rs45590836(A;A) |
| Reference | Rs45590836(G;G) |
| Significance | Pathogenic |
| Disease | Homocysteinemia due to MTHFR deficiency |
| Variation | info |
| Gene | MTHFR |
| CLNDBN | Homocysteinemia due to MTHFR deficiency |
| Reversed | 1 |
| HGVS | NC_000001.10:g.11851273C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000003705.2, |
[PMID 19421414
] Genetic variation in the methylenetetrahydrofolate reductase gene, MTHFR, does not alter the risk of visual failure in Leber's hereditary optic neuropathy.
