rs386833612
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (GGGGT;GGGGT) | 0 | common in clinvar |
| (TGGGG;TGGGG) | 0 | common/normal |
| Make rs386833612(-;-) |
| Make rs386833612(-;TGGGG) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 10 |
| Position | 124405548 |
| Gene | OAT |
| is a | snp |
| is | mentioned by |
| dbSNP | rs386833612 |
| dbSNP (classic) | rs386833612 |
| ClinGen | rs386833612 |
| ebi | rs386833612 |
| HLI | rs386833612 |
| Exac | rs386833612 |
| Gnomad | rs386833612 |
| Varsome | rs386833612 |
| LitVar | rs386833612 |
| Map | rs386833612 |
| PheGenI | rs386833612 |
| Biobank | rs386833612 |
| 1000 genomes | rs386833612 |
| hgdp | rs386833612 |
| ensembl | rs386833612 |
| geneview | rs386833612 |
| scholar | rs386833612 |
| rs386833612 | |
| pharmgkb | rs386833612 |
| gwascentral | rs386833612 |
| openSNP | rs386833612 |
| 23andMe | rs386833612 |
| SNPshot | rs386833612 |
| SNPdbe | rs386833612 |
| MSV3d | rs386833612 |
| GWAS Ctlg | rs386833612 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs386833612(-;-) |
| Alt | rs386833612(-;-) |
| Reference | Rs386833612(GGGGT;GGGGT) |
| Significance | Probable-Pathogenic |
| Disease | Ornithine aminotransferase deficiency |
| Variation | info |
| Gene | OAT |
| CLNDBN | Ornithine aminotransferase deficiency |
| Reversed | 1 |
| HGVS | NC_000010.10:g.126094117_126094121delCCCCA |
| CLNSRC | ClinVar |
| CLNACC | RCV000049539.1, |
[PMID 22674428] Gyrate atrophy: clinical and genetic findings in a female without arginine-restricted diet during her first 39 years of life and report of a new OAT gene mutation.
