rs145580093
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs145580093(C;C) |
| Make rs145580093(C;T) |
| Reference | GRCh38.p7 38.3/149 |
| Chromosome | 14 |
| Position | 87986582 |
| Gene | GALC |
| is a | snp |
| is | mentioned by |
| dbSNP | rs145580093 |
| dbSNP (classic) | rs145580093 |
| ClinGen | rs145580093 |
| ebi | rs145580093 |
| HLI | rs145580093 |
| Exac | rs145580093 |
| Gnomad | rs145580093 |
| Varsome | rs145580093 |
| LitVar | rs145580093 |
| Map | rs145580093 |
| PheGenI | rs145580093 |
| Biobank | rs145580093 |
| 1000 genomes | rs145580093 |
| hgdp | rs145580093 |
| ensembl | rs145580093 |
| geneview | rs145580093 |
| scholar | rs145580093 |
| rs145580093 | |
| pharmgkb | rs145580093 |
| gwascentral | rs145580093 |
| openSNP | rs145580093 |
| 23andMe | rs145580093 |
| SNPshot | rs145580093 |
| SNPdbe | rs145580093 |
| MSV3d | rs145580093 |
| GWAS Ctlg | rs145580093 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs145580093(C;C) |
| Alt | rs145580093(C;C) |
| Reference | Rs145580093(T;T) |
| Significance | Pathogenic |
| Disease | not provided not specified |
| Variation | info |
| Gene | GALC |
| CLNDBN | not provided not specified |
| Reversed | 0 |
| HGVS | NC_000014.8:g.88452926T>C |
| CLNSRC | |
| CLNACC | RCV000078201.6, RCV000259045.1, |
