rs121965048
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 3 | Likely miscall if from Ancestry or Genes for Good; otherwise, possible mutation |
| (C;C) | 0 | common in clinvar |
| Make rs121965048(A;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 10 |
| Position | 124412010 |
| Gene | OAT |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121965048 |
| dbSNP (classic) | rs121965048 |
| ClinGen | rs121965048 |
| ebi | rs121965048 |
| HLI | rs121965048 |
| Exac | rs121965048 |
| Gnomad | rs121965048 |
| Varsome | rs121965048 |
| LitVar | rs121965048 |
| Map | rs121965048 |
| PheGenI | rs121965048 |
| Biobank | rs121965048 |
| 1000 genomes | rs121965048 |
| hgdp | rs121965048 |
| ensembl | rs121965048 |
| geneview | rs121965048 |
| scholar | rs121965048 |
| rs121965048 | |
| pharmgkb | rs121965048 |
| gwascentral | rs121965048 |
| openSNP | rs121965048 |
| 23andMe | rs121965048 |
| SNPshot | rs121965048 |
| SNPdbe | rs121965048 |
| MSV3d | rs121965048 |
| GWAS Ctlg | rs121965048 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | Rs121965048(A;A) |
| Alt | Rs121965048(A;A) |
| Reference | Rs121965048(C;C) |
| Significance | Pathogenic |
| Disease | Ornithine aminotransferase deficiency |
| Variation | info |
| Gene | OAT |
| CLNDBN | Ornithine aminotransferase deficiency |
| Reversed | 1 |
| HGVS | NC_000010.10:g.126100579G>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000000186.2, |
