rs775277935
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs775277935(-;-) |
| Make rs775277935(-;T) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 14 |
| Position | 87986501 |
| Gene | GALC |
| is a | snp |
| is | mentioned by |
| dbSNP | rs775277935 |
| dbSNP (classic) | rs775277935 |
| ClinGen | rs775277935 |
| ebi | rs775277935 |
| HLI | rs775277935 |
| Exac | rs775277935 |
| Gnomad | rs775277935 |
| Varsome | rs775277935 |
| LitVar | rs775277935 |
| Map | rs775277935 |
| PheGenI | rs775277935 |
| Biobank | rs775277935 |
| 1000 genomes | rs775277935 |
| hgdp | rs775277935 |
| ensembl | rs775277935 |
| geneview | rs775277935 |
| scholar | rs775277935 |
| rs775277935 | |
| pharmgkb | rs775277935 |
| gwascentral | rs775277935 |
| openSNP | rs775277935 |
| 23andMe | rs775277935 |
| SNPshot | rs775277935 |
| SNPdbe | rs775277935 |
| MSV3d | rs775277935 |
| GWAS Ctlg | rs775277935 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs775277935(-;-) |
| Alt | rs775277935(-;-) |
| Reference | Rs775277935(T;T) |
| Significance | Pathogenic |
| Disease | Galactosylceramide beta-galactosidase deficiency not provided |
| Variation | info |
| Gene | GALC |
| CLNDBN | Galactosylceramide beta-galactosidase deficiency not provided |
| Reversed | 0 |
| HGVS | NC_000014.8:g.88452845delT |
| CLNSRC | |
| CLNACC | RCV000178046.1, RCV000255375.1, |
