rs72554356
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs72554356(C;T) |
| Make rs72554356(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | X |
| Position | 38381417 |
| Gene | OTC |
| is a | snp |
| is | mentioned by |
| dbSNP | rs72554356 |
| dbSNP (classic) | rs72554356 |
| ClinGen | rs72554356 |
| ebi | rs72554356 |
| HLI | rs72554356 |
| Exac | rs72554356 |
| Gnomad | rs72554356 |
| Varsome | rs72554356 |
| LitVar | rs72554356 |
| Map | rs72554356 |
| PheGenI | rs72554356 |
| Biobank | rs72554356 |
| 1000 genomes | rs72554356 |
| hgdp | rs72554356 |
| ensembl | rs72554356 |
| geneview | rs72554356 |
| scholar | rs72554356 |
| rs72554356 | |
| pharmgkb | rs72554356 |
| gwascentral | rs72554356 |
| openSNP | rs72554356 |
| 23andMe | rs72554356 |
| SNPshot | rs72554356 |
| SNPdbe | rs72554356 |
| MSV3d | rs72554356 |
| GWAS Ctlg | rs72554356 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs72554356(T;T) |
| Alt | rs72554356(T;T) |
| Reference | Rs72554356(C;C) |
| Significance | Pathogenic |
| Disease | not provided Hyperammonaemia |
| Variation | info |
| Gene | OTC |
| CLNDBN | not provided Hyperammonaemia |
| Reversed | 0 |
| HGVS | NC_000023.10:g.38240670C>T |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000083408.1, RCV000148721.1, |
