rs781496816
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs781496816(C;T) |
| Make rs781496816(T;T) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 15 |
| Position | 80168116 |
| Gene | FAH |
| is a | snp |
| is | mentioned by |
| dbSNP | rs781496816 |
| dbSNP (classic) | rs781496816 |
| ClinGen | rs781496816 |
| ebi | rs781496816 |
| HLI | rs781496816 |
| Exac | rs781496816 |
| Gnomad | rs781496816 |
| Varsome | rs781496816 |
| LitVar | rs781496816 |
| Map | rs781496816 |
| PheGenI | rs781496816 |
| Biobank | rs781496816 |
| 1000 genomes | rs781496816 |
| hgdp | rs781496816 |
| ensembl | rs781496816 |
| geneview | rs781496816 |
| scholar | rs781496816 |
| rs781496816 | |
| pharmgkb | rs781496816 |
| gwascentral | rs781496816 |
| openSNP | rs781496816 |
| 23andMe | rs781496816 |
| SNPshot | rs781496816 |
| SNPdbe | rs781496816 |
| MSV3d | rs781496816 |
| GWAS Ctlg | rs781496816 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs781496816(T;T) |
| Alt | rs781496816(T;T) |
| Reference | Rs781496816(C;C) |
| Significance | Pathogenic |
| Disease | Tyrosinemia type I not provided |
| Variation | info |
| Gene | FAH |
| CLNDBN | Tyrosinemia type I not provided |
| Reversed | 0 |
| HGVS | NC_000015.9:g.80460458C>T |
| CLNSRC | |
| CLNACC | RCV000169065.1, RCV000413278.1, |
