rs67916658
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs67916658(A;A) |
| Make rs67916658(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | X |
| Position | 38421022 |
| Gene | OTC |
| is a | snp |
| is | mentioned by |
| dbSNP | rs67916658 |
| dbSNP (classic) | rs67916658 |
| ClinGen | rs67916658 |
| ebi | rs67916658 |
| HLI | rs67916658 |
| Exac | rs67916658 |
| Gnomad | rs67916658 |
| Varsome | rs67916658 |
| LitVar | rs67916658 |
| Map | rs67916658 |
| PheGenI | rs67916658 |
| Biobank | rs67916658 |
| 1000 genomes | rs67916658 |
| hgdp | rs67916658 |
| ensembl | rs67916658 |
| geneview | rs67916658 |
| scholar | rs67916658 |
| rs67916658 | |
| pharmgkb | rs67916658 |
| gwascentral | rs67916658 |
| openSNP | rs67916658 |
| 23andMe | rs67916658 |
| SNPshot | rs67916658 |
| SNPdbe | rs67916658 |
| MSV3d | rs67916658 |
| GWAS Ctlg | rs67916658 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs67916658(A;A) |
| Alt | rs67916658(A;A) |
| Reference | Rs67916658(G;G) |
| Significance | Pathogenic |
| Disease | not provided |
| Variation | info |
| Gene | OTC |
| CLNDBN | not provided |
| Reversed | 0 |
| HGVS | NC_000023.10:g.38280275G>A |
| CLNSRC | ClinVar |
| CLNACC | RCV000083316.1, |
[PMID 11793468] Mutations and polymorphisms in the human ornithine transcarbamylase gene.
[PMID 14705115] Metabolic and neuropsychological phenotype in women heterozygous for ornithine transcarbamylase deficiency.
