rs776368825
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs776368825(A;A) |
| Make rs776368825(A;G) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 14 |
| Position | 87965592 |
| Gene | GALC |
| is a | snp |
| is | mentioned by |
| dbSNP | rs776368825 |
| dbSNP (classic) | rs776368825 |
| ClinGen | rs776368825 |
| ebi | rs776368825 |
| HLI | rs776368825 |
| Exac | rs776368825 |
| Gnomad | rs776368825 |
| Varsome | rs776368825 |
| LitVar | rs776368825 |
| Map | rs776368825 |
| PheGenI | rs776368825 |
| Biobank | rs776368825 |
| 1000 genomes | rs776368825 |
| hgdp | rs776368825 |
| ensembl | rs776368825 |
| geneview | rs776368825 |
| scholar | rs776368825 |
| rs776368825 | |
| pharmgkb | rs776368825 |
| gwascentral | rs776368825 |
| openSNP | rs776368825 |
| 23andMe | rs776368825 |
| SNPshot | rs776368825 |
| SNPdbe | rs776368825 |
| MSV3d | rs776368825 |
| GWAS Ctlg | rs776368825 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs776368825(A;A) rs776368825(T;T) |
| Alt | rs776368825(A;A) rs776368825(T;T) |
| Reference | Rs776368825(G;G) |
| Significance | Probable-Pathogenic |
| Disease | Galactosylceramide beta-galactosidase deficiency |
| Variation | info |
| Gene | GALC |
| CLNDBN | Galactosylceramide beta-galactosidase deficiency |
| Reversed | 0 |
| HGVS | NC_000014.8:g.88431936G>A |
| CLNSRC | |
| CLNACC | RCV000411117.1, |
