rs1800328
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs1800328(A;C) |
| Make rs1800328(C;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | X |
| Position | 38408967 |
| Gene | OTC |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1800328 |
| dbSNP (classic) | rs1800328 |
| ClinGen | rs1800328 |
| ebi | rs1800328 |
| HLI | rs1800328 |
| Exac | rs1800328 |
| Gnomad | rs1800328 |
| Varsome | rs1800328 |
| LitVar | rs1800328 |
| Map | rs1800328 |
| PheGenI | rs1800328 |
| Biobank | rs1800328 |
| 1000 genomes | rs1800328 |
| hgdp | rs1800328 |
| ensembl | rs1800328 |
| geneview | rs1800328 |
| scholar | rs1800328 |
| rs1800328 | |
| pharmgkb | rs1800328 |
| gwascentral | rs1800328 |
| openSNP | rs1800328 |
| 23andMe | rs1800328 |
| SNPshot | rs1800328 |
| SNPdbe | rs1800328 |
| MSV3d | rs1800328 |
| GWAS Ctlg | rs1800328 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs1800328(C;C) rs1800328(G;G) |
| Alt | rs1800328(C;C) rs1800328(G;G) |
| Reference | Rs1800328(A;A) |
| Significance | Other |
| Disease | not provided not specified Ornithine carbamoyltransferase deficiency |
| Variation | info |
| Gene | OTC |
| CLNDBN | not provided not specified Ornithine carbamoyltransferase deficiency |
| Reversed | 0 |
| HGVS | NC_000023.10:g.38268220A>C; NC_000023.10:g.38268220A>G |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000083583.1, RCV000117884.4, RCV000335039.1, |
