rs66867430
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs66867430(A;C) |
| Make rs66867430(C;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | X |
| Position | 38401391 |
| Gene | OTC |
| is a | snp |
| is | mentioned by |
| dbSNP | rs66867430 |
| dbSNP (classic) | rs66867430 |
| ClinGen | rs66867430 |
| ebi | rs66867430 |
| HLI | rs66867430 |
| Exac | rs66867430 |
| Gnomad | rs66867430 |
| Varsome | rs66867430 |
| LitVar | rs66867430 |
| Map | rs66867430 |
| PheGenI | rs66867430 |
| Biobank | rs66867430 |
| 1000 genomes | rs66867430 |
| hgdp | rs66867430 |
| ensembl | rs66867430 |
| geneview | rs66867430 |
| scholar | rs66867430 |
| rs66867430 | |
| pharmgkb | rs66867430 |
| gwascentral | rs66867430 |
| openSNP | rs66867430 |
| 23andMe | rs66867430 |
| SNPshot | rs66867430 |
| SNPdbe | rs66867430 |
| MSV3d | rs66867430 |
| GWAS Ctlg | rs66867430 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs66867430(C;C) rs66867430(G;G) |
| Alt | rs66867430(C;C) rs66867430(G;G) |
| Reference | Rs66867430(A;A) |
| Significance | Pathogenic |
| Disease | not provided |
| Variation | info |
| Gene | OTC |
| CLNDBN | not provided |
| Reversed | 0 |
| HGVS | NC_000023.10:g.38260644A>C; NC_000023.10:g.38260644A>G |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000083464.1, RCV000083465.1, |
[PMID 16786505] Mutations and polymorphisms in the human ornithine transcarbamylase (OTC) gene.
[PMID 9266387] Mutation of ornithine transcarbamylase (H136R) in a girl with severe intermittent orotic aciduria but normal enzyme activity.
