rs794727838
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs794727838(C;T) |
| Make rs794727838(T;T) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 9 |
| Position | 34648341 |
| Gene | GALT |
| is a | snp |
| is | mentioned by |
| dbSNP | rs794727838 |
| dbSNP (classic) | rs794727838 |
| ClinGen | rs794727838 |
| ebi | rs794727838 |
| HLI | rs794727838 |
| Exac | rs794727838 |
| Gnomad | rs794727838 |
| Varsome | rs794727838 |
| LitVar | rs794727838 |
| Map | rs794727838 |
| PheGenI | rs794727838 |
| Biobank | rs794727838 |
| 1000 genomes | rs794727838 |
| hgdp | rs794727838 |
| ensembl | rs794727838 |
| geneview | rs794727838 |
| scholar | rs794727838 |
| rs794727838 | |
| pharmgkb | rs794727838 |
| gwascentral | rs794727838 |
| openSNP | rs794727838 |
| 23andMe | rs794727838 |
| SNPshot | rs794727838 |
| SNPdbe | rs794727838 |
| MSV3d | rs794727838 |
| GWAS Ctlg | rs794727838 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs794727838(T;T) |
| Alt | rs794727838(T;T) |
| Reference | Rs794727838(C;C) |
| Significance | Probable-Pathogenic |
| Disease | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase |
| Variation | info |
| Gene | GALT |
| CLNDBN | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase |
| Reversed | 0 |
| HGVS | NC_000009.11:g.34648338C>T |
| CLNSRC | |
| CLNACC | RCV000179721.1, |
