rs66724222
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs66724222(A;A) |
| Make rs66724222(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | X |
| Position | 38408988 |
| Gene | OTC |
| is a | snp |
| is | mentioned by |
| dbSNP | rs66724222 |
| dbSNP (classic) | rs66724222 |
| ClinGen | rs66724222 |
| ebi | rs66724222 |
| HLI | rs66724222 |
| Exac | rs66724222 |
| Gnomad | rs66724222 |
| Varsome | rs66724222 |
| LitVar | rs66724222 |
| Map | rs66724222 |
| PheGenI | rs66724222 |
| Biobank | rs66724222 |
| 1000 genomes | rs66724222 |
| hgdp | rs66724222 |
| ensembl | rs66724222 |
| geneview | rs66724222 |
| scholar | rs66724222 |
| rs66724222 | |
| pharmgkb | rs66724222 |
| gwascentral | rs66724222 |
| openSNP | rs66724222 |
| 23andMe | rs66724222 |
| SNPshot | rs66724222 |
| SNPdbe | rs66724222 |
| MSV3d | rs66724222 |
| GWAS Ctlg | rs66724222 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs66724222(A;A) rs66724222(T;T) |
| Alt | rs66724222(A;A) rs66724222(T;T) |
| Reference | Rs66724222(G;G) |
| Significance | Pathogenic |
| Disease | not provided |
| Variation | info |
| Gene | OTC |
| CLNDBN | not provided |
| Reversed | 0 |
| HGVS | NC_000023.10:g.38268241G>A; NC_000023.10:g.38268241G>T |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000083587.1, RCV000083588.1, |
[PMID 7951259] Seven new mutations in the human ornithine transcarbamylase gene.
[PMID 11793468] Mutations and polymorphisms in the human ornithine transcarbamylase gene.
