rs771712041
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs771712041(A;A) |
| Make rs771712041(A;G) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 15 |
| Position | 80172148 |
| Gene | FAH |
| is a | snp |
| is | mentioned by |
| dbSNP | rs771712041 |
| dbSNP (classic) | rs771712041 |
| ClinGen | rs771712041 |
| ebi | rs771712041 |
| HLI | rs771712041 |
| Exac | rs771712041 |
| Gnomad | rs771712041 |
| Varsome | rs771712041 |
| LitVar | rs771712041 |
| Map | rs771712041 |
| PheGenI | rs771712041 |
| Biobank | rs771712041 |
| 1000 genomes | rs771712041 |
| hgdp | rs771712041 |
| ensembl | rs771712041 |
| geneview | rs771712041 |
| scholar | rs771712041 |
| rs771712041 | |
| pharmgkb | rs771712041 |
| gwascentral | rs771712041 |
| openSNP | rs771712041 |
| 23andMe | rs771712041 |
| SNPshot | rs771712041 |
| SNPdbe | rs771712041 |
| MSV3d | rs771712041 |
| GWAS Ctlg | rs771712041 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs771712041(A;A) rs771712041(C;C) |
| Alt | rs771712041(A;A) rs771712041(C;C) |
| Reference | Rs771712041(G;G) |
| Significance | Probable-Pathogenic |
| Disease | Tyrosinemia type I |
| Variation | info |
| Gene | FAH |
| CLNDBN | Tyrosinemia type I |
| Reversed | 0 |
| HGVS | NC_000015.9:g.80464490G>A |
| CLNSRC | |
| CLNACC | RCV000169069.1, |
