rs794727395
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (GT;GT) | 0 | common in clinvar |
| (I;I) | 0 | common genotype |
| (TG;TG) | 0 | common in clinvar |
| Make rs794727395(-;-) |
| Make rs794727395(-;TG) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 1 |
| Position | 236880829 |
| Gene | MTR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs794727395 |
| dbSNP (classic) | rs794727395 |
| ClinGen | rs794727395 |
| ebi | rs794727395 |
| HLI | rs794727395 |
| Exac | rs794727395 |
| Gnomad | rs794727395 |
| Varsome | rs794727395 |
| LitVar | rs794727395 |
| Map | rs794727395 |
| PheGenI | rs794727395 |
| Biobank | rs794727395 |
| 1000 genomes | rs794727395 |
| hgdp | rs794727395 |
| ensembl | rs794727395 |
| geneview | rs794727395 |
| scholar | rs794727395 |
| rs794727395 | |
| pharmgkb | rs794727395 |
| gwascentral | rs794727395 |
| openSNP | rs794727395 |
| 23andMe | rs794727395 |
| SNPshot | rs794727395 |
| SNPdbe | rs794727395 |
| MSV3d | rs794727395 |
| GWAS Ctlg | rs794727395 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs794727395(-;-) Rs794727395(GT;GT) |
| Alt | rs794727395(-;-) Rs794727395(GT;GT) |
| Reference | Rs794727395(TG;TG) |
| Significance | Pathogenic |
| Disease | METHYLCOBALAMIN DEFICIENCY |
| Variation | info |
| Gene | MTR |
| CLNDBN | METHYLCOBALAMIN DEFICIENCY, cblG TYPE |
| Reversed | 0 |
| HGVS | NC_000001.10:g.237044129_237044130delTG |
| CLNSRC | |
| CLNACC | RCV000176521.1, |
