rs761550284
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 3 | carrier of one Krabbe disease allele |
| (T;T) | 6 | Krabbe disease (likely) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 14 |
| Position | 87984487 |
| Gene | GALC |
| is a | snp |
| is | mentioned by |
| dbSNP | rs761550284 |
| dbSNP (classic) | rs761550284 |
| ClinGen | rs761550284 |
| ebi | rs761550284 |
| HLI | rs761550284 |
| Exac | rs761550284 |
| Gnomad | rs761550284 |
| Varsome | rs761550284 |
| LitVar | rs761550284 |
| Map | rs761550284 |
| PheGenI | rs761550284 |
| Biobank | rs761550284 |
| 1000 genomes | rs761550284 |
| hgdp | rs761550284 |
| ensembl | rs761550284 |
| geneview | rs761550284 |
| scholar | rs761550284 |
| rs761550284 | |
| pharmgkb | rs761550284 |
| gwascentral | rs761550284 |
| openSNP | rs761550284 |
| 23andMe | rs761550284 |
| SNPshot | rs761550284 |
| SNPdbe | rs761550284 |
| MSV3d | rs761550284 |
| GWAS Ctlg | rs761550284 |
| Max Magnitude | 6 |
aka c.489G>A, p.Trp163Ter
Identified in ClinVar as likely pathogenic for Krabbe disease (when inherited in two copies or as a compound heterozygote)
| ClinVar | |
|---|---|
| Risk | Rs761550284(T;T) |
| Alt | Rs761550284(T;T) |
| Reference | Rs761550284(C;C) |
| Significance | Probable-Pathogenic |
| Disease | Galactosylceramide beta-galactosidase deficiency |
| Variation | info |
| Gene | GALC |
| CLNDBN | Galactosylceramide beta-galactosidase deficiency |
| Reversed | 0 |
| HGVS | NC_000014.8:g.88450831C>T |
| CLNSRC | |
| CLNACC | RCV000169212.1, |
