rs200872504
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs200872504(C;T) |
| Make rs200872504(T;T) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 22 |
| Position | 42628144 |
| Gene | CYB5R3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs200872504 |
| dbSNP (classic) | rs200872504 |
| ClinGen | rs200872504 |
| ebi | rs200872504 |
| HLI | rs200872504 |
| Exac | rs200872504 |
| Gnomad | rs200872504 |
| Varsome | rs200872504 |
| LitVar | rs200872504 |
| Map | rs200872504 |
| PheGenI | rs200872504 |
| Biobank | rs200872504 |
| 1000 genomes | rs200872504 |
| hgdp | rs200872504 |
| ensembl | rs200872504 |
| geneview | rs200872504 |
| scholar | rs200872504 |
| rs200872504 | |
| pharmgkb | rs200872504 |
| gwascentral | rs200872504 |
| openSNP | rs200872504 |
| 23andMe | rs200872504 |
| SNPshot | rs200872504 |
| SNPdbe | rs200872504 |
| MSV3d | rs200872504 |
| GWAS Ctlg | rs200872504 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs200872504(G;G) rs200872504(T;T) |
| Alt | rs200872504(G;G) rs200872504(T;T) |
| Reference | Rs200872504(C;C) |
| Significance | Pathogenic |
| Disease | Methemoglobinemia type 2 |
| Variation | info |
| Gene | CYB5R3 |
| CLNDBN | Methemoglobinemia type 2 |
| Reversed | 0 |
| HGVS | NC_000022.10:g.43024150C>G |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000000263.2, |
