rs772895065
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs772895065(C;C) |
| Make rs772895065(C;T) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 15 |
| Position | 80153137 |
| Gene | FAH |
| is a | snp |
| is | mentioned by |
| dbSNP | rs772895065 |
| dbSNP (classic) | rs772895065 |
| ClinGen | rs772895065 |
| ebi | rs772895065 |
| HLI | rs772895065 |
| Exac | rs772895065 |
| Gnomad | rs772895065 |
| Varsome | rs772895065 |
| LitVar | rs772895065 |
| Map | rs772895065 |
| PheGenI | rs772895065 |
| Biobank | rs772895065 |
| 1000 genomes | rs772895065 |
| hgdp | rs772895065 |
| ensembl | rs772895065 |
| geneview | rs772895065 |
| scholar | rs772895065 |
| rs772895065 | |
| pharmgkb | rs772895065 |
| gwascentral | rs772895065 |
| openSNP | rs772895065 |
| 23andMe | rs772895065 |
| SNPshot | rs772895065 |
| SNPdbe | rs772895065 |
| MSV3d | rs772895065 |
| GWAS Ctlg | rs772895065 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs772895065(A;A) rs772895065(C;C) |
| Alt | rs772895065(A;A) rs772895065(C;C) |
| Reference | Rs772895065(T;T) |
| Significance | Probable-Pathogenic |
| Disease | Tyrosinemia type I |
| Variation | info |
| Gene | FAH |
| CLNDBN | Tyrosinemia type I |
| Reversed | 0 |
| HGVS | NC_000015.9:g.80445479T>A; NC_000015.9:g.80445479T>C |
| CLNSRC | |
| CLNACC | RCV000454161.1, RCV000409344.1, |
