rs80338899
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 5 | Tyrosinemia type I |
| (A;G) | 3 | carrier for a tyrosinemia type I allele |
| (G;G) | 0 | common in clinvar |
| Reference | GRCh38 38.1/141 |
| Chromosome | 15 |
| Position | 80173093 |
| Gene | FAH |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80338899 |
| dbSNP (classic) | rs80338899 |
| ClinGen | rs80338899 |
| ebi | rs80338899 |
| HLI | rs80338899 |
| Exac | rs80338899 |
| Gnomad | rs80338899 |
| Varsome | rs80338899 |
| LitVar | rs80338899 |
| Map | rs80338899 |
| PheGenI | rs80338899 |
| Biobank | rs80338899 |
| 1000 genomes | rs80338899 |
| hgdp | rs80338899 |
| ensembl | rs80338899 |
| geneview | rs80338899 |
| scholar | rs80338899 |
| rs80338899 | |
| pharmgkb | rs80338899 |
| gwascentral | rs80338899 |
| openSNP | rs80338899 |
| 23andMe | rs80338899 |
| SNPshot | rs80338899 |
| SNPdbe | rs80338899 |
| MSV3d | rs80338899 |
| GWAS Ctlg | rs80338899 |
| Max Magnitude | 5 |
| ClinVar | |
|---|---|
| Risk | Rs80338899(A;A) |
| Alt | Rs80338899(A;A) |
| Reference | Rs80338899(G;G) |
| Significance | Pathogenic |
| Disease | Tyrosinemia type I |
| Variation | info |
| Gene | FAH |
| CLNDBN | Tyrosinemia type I |
| Reversed | 0 |
| HGVS | NC_000015.9:g.80465435G>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000012648.6, |
[PMID 8162054] Identification of a stop mutation in five Finnish patients suffering from hereditary tyrosinemia type I.
[PMID 8723698] Simple detection of a (Finnish) hereditary tyrosinemia type 1 mutation.
