rs66469337
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 8.2 | Ornithine Transcarbamylase Deficiency |
| (G;T) | 3 | Carrier of an ornithine carbamoyltransferase mutation |
| (T;T) | 0 | common in clinvar |
| Make rs66469337(C;C) |
| Make rs66469337(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | X |
| Position | 38421050 |
| Gene | OTC |
| is a | snp |
| is | mentioned by |
| dbSNP | rs66469337 |
| dbSNP (classic) | rs66469337 |
| ClinGen | rs66469337 |
| ebi | rs66469337 |
| HLI | rs66469337 |
| Exac | rs66469337 |
| Gnomad | rs66469337 |
| Varsome | rs66469337 |
| LitVar | rs66469337 |
| Map | rs66469337 |
| PheGenI | rs66469337 |
| Biobank | rs66469337 |
| 1000 genomes | rs66469337 |
| hgdp | rs66469337 |
| ensembl | rs66469337 |
| geneview | rs66469337 |
| scholar | rs66469337 |
| rs66469337 | |
| pharmgkb | rs66469337 |
| gwascentral | rs66469337 |
| openSNP | rs66469337 |
| 23andMe | rs66469337 |
| SNPshot | rs66469337 |
| SNPdbe | rs66469337 |
| MSV3d | rs66469337 |
| GWAS Ctlg | rs66469337 |
| Max Magnitude | 8.2 |
| ClinVar | |
|---|---|
| Risk | rs66469337(C;C) Rs66469337(G;G) |
| Alt | rs66469337(C;C) Rs66469337(G;G) |
| Reference | Rs66469337(T;T) |
| Significance | Pathogenic |
| Disease | not provided Ornithine carbamoyltransferase deficiency |
| Variation | info |
| Gene | OTC |
| CLNDBN | not provided Ornithine carbamoyltransferase deficiency |
| Reversed | 0 |
| HGVS | NC_000023.10:g.38280303T>C; NC_000023.10:g.38280303T>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000083324.1, RCV000011756.10, RCV000083325.1, |
[PMID 16786505] Mutations and polymorphisms in the human ornithine transcarbamylase (OTC) gene.
[PMID 1480464] Six new mutations in the ornithine transcarbamylase gene detected by single-strand conformational polymorphism.
