rs66500027
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs66500027(G;T) |
| Make rs66500027(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | X |
| Position | 38408796 |
| Gene | OTC |
| is a | snp |
| is | mentioned by |
| dbSNP | rs66500027 |
| dbSNP (classic) | rs66500027 |
| ClinGen | rs66500027 |
| ebi | rs66500027 |
| HLI | rs66500027 |
| Exac | rs66500027 |
| Gnomad | rs66500027 |
| Varsome | rs66500027 |
| LitVar | rs66500027 |
| Map | rs66500027 |
| PheGenI | rs66500027 |
| Biobank | rs66500027 |
| 1000 genomes | rs66500027 |
| hgdp | rs66500027 |
| ensembl | rs66500027 |
| geneview | rs66500027 |
| scholar | rs66500027 |
| rs66500027 | |
| pharmgkb | rs66500027 |
| gwascentral | rs66500027 |
| openSNP | rs66500027 |
| 23andMe | rs66500027 |
| SNPshot | rs66500027 |
| SNPdbe | rs66500027 |
| MSV3d | rs66500027 |
| GWAS Ctlg | rs66500027 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs66500027(A;A) rs66500027(T;T) |
| Alt | rs66500027(A;A) rs66500027(T;T) |
| Reference | Rs66500027(G;G) |
| Significance | Pathogenic |
| Disease | not provided |
| Variation | info |
| Gene | OTC |
| CLNDBN | not provided |
| Reversed | 0 |
| HGVS | NC_000023.10:g.38268049G>A; NC_000023.10:g.38268049G>T |
| CLNSRC | ClinVar |
| CLNACC | RCV000083542.1, RCV000083543.1, |
[PMID 11793468] Mutations and polymorphisms in the human ornithine transcarbamylase gene.
[PMID 11117428] Mutation detection in 65 families with a possible diagnosis of ornithine carbamoyltransferase deficiency including 14 novel mutations.
