rs1800456
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| Make rs1800456(G;T) |
| Make rs1800456(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 10 |
| Position | 124397951 |
| Gene | OAT |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1800456 |
| dbSNP (classic) | rs1800456 |
| ClinGen | rs1800456 |
| ebi | rs1800456 |
| HLI | rs1800456 |
| Exac | rs1800456 |
| Gnomad | rs1800456 |
| Varsome | rs1800456 |
| LitVar | rs1800456 |
| Map | rs1800456 |
| PheGenI | rs1800456 |
| Biobank | rs1800456 |
| 1000 genomes | rs1800456 |
| hgdp | rs1800456 |
| ensembl | rs1800456 |
| geneview | rs1800456 |
| scholar | rs1800456 |
| rs1800456 | |
| pharmgkb | rs1800456 |
| gwascentral | rs1800456 |
| openSNP | rs1800456 |
| 23andMe | rs1800456 |
| SNPshot | rs1800456 |
| SNPdbe | rs1800456 |
| MSV3d | rs1800456 |
| GWAS Ctlg | rs1800456 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs1800456(A;A) rs1800456(C;C) rs1800456(T;T) |
| Alt | rs1800456(A;A) rs1800456(C;C) rs1800456(T;T) |
| Reference | Rs1800456(G;G) |
| Significance | Probable-Pathogenic |
| Disease | Ornithine aminotransferase deficiency OAT POLYMORPHISM |
| Variation | info |
| Gene | OAT |
| CLNDBN | Ornithine aminotransferase deficiency OAT POLYMORPHISM |
| Reversed | 1 |
| HGVS | NC_000010.10:g.126086520C>A; NC_000010.10:g.126086520C>G |
| CLNSRC | UniProtKB (protein) OMIM Allelic Variant |
| CLNACC | RCV000049525.1, RCV000000181.3, |
[PMID 23076989] Functional analysis of missense mutations of OAT, causing gyrate atrophy of choroid and retina.
