rs67283833
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs67283833(A;T) |
| Make rs67283833(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | X |
| Position | 38408794 |
| Gene | OTC |
| is a | snp |
| is | mentioned by |
| dbSNP | rs67283833 |
| dbSNP (classic) | rs67283833 |
| ClinGen | rs67283833 |
| ebi | rs67283833 |
| HLI | rs67283833 |
| Exac | rs67283833 |
| Gnomad | rs67283833 |
| Varsome | rs67283833 |
| LitVar | rs67283833 |
| Map | rs67283833 |
| PheGenI | rs67283833 |
| Biobank | rs67283833 |
| 1000 genomes | rs67283833 |
| hgdp | rs67283833 |
| ensembl | rs67283833 |
| geneview | rs67283833 |
| scholar | rs67283833 |
| rs67283833 | |
| pharmgkb | rs67283833 |
| gwascentral | rs67283833 |
| openSNP | rs67283833 |
| 23andMe | rs67283833 |
| SNPshot | rs67283833 |
| SNPdbe | rs67283833 |
| MSV3d | rs67283833 |
| GWAS Ctlg | rs67283833 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs67283833(G;G) rs67283833(T;T) |
| Alt | rs67283833(G;G) rs67283833(T;T) |
| Reference | Rs67283833(A;A) |
| Significance | Pathogenic |
| Disease | not provided |
| Variation | info |
| Gene | OTC |
| CLNDBN | not provided |
| Reversed | 0 |
| HGVS | NC_000023.10:g.38268047A>G; NC_000023.10:g.38268047A>T |
| CLNSRC | ClinVar |
| CLNACC | RCV000083540.1, RCV000083541.1, |
[PMID 16786505] Mutations and polymorphisms in the human ornithine transcarbamylase (OTC) gene.
