rs387906953
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 6 | Krabbe disease (likely) |
| (G;T) | 3 | carrier of one Krabbe disease allele |
| (T;T) | 0 | common in clinvar |
| Reference | GRCh38 38.1/141 |
| Chromosome | 14 |
| Position | 87941433 |
| Gene | GALC |
| is a | snp |
| is | mentioned by |
| dbSNP | rs387906953 |
| dbSNP (classic) | rs387906953 |
| ClinGen | rs387906953 |
| ebi | rs387906953 |
| HLI | rs387906953 |
| Exac | rs387906953 |
| Gnomad | rs387906953 |
| Varsome | rs387906953 |
| LitVar | rs387906953 |
| Map | rs387906953 |
| PheGenI | rs387906953 |
| Biobank | rs387906953 |
| 1000 genomes | rs387906953 |
| hgdp | rs387906953 |
| ensembl | rs387906953 |
| geneview | rs387906953 |
| scholar | rs387906953 |
| rs387906953 | |
| pharmgkb | rs387906953 |
| gwascentral | rs387906953 |
| openSNP | rs387906953 |
| 23andMe | rs387906953 |
| SNPshot | rs387906953 |
| SNPdbe | rs387906953 |
| MSV3d | rs387906953 |
| GWAS Ctlg | rs387906953 |
| Max Magnitude | 6 |
aka c.1796T>G, p.Ile599Ser
Identified in ClinVar as likely pathogenic/pathogenic for Krabbe disease (when inherited in two copies or as a compound heterozygote)
| ClinVar | |
|---|---|
| Risk | Rs387906953(G;G) |
| Alt | Rs387906953(G;G) |
| Reference | Rs387906953(T;T) |
| Significance | Pathogenic |
| Disease | Galactosylceramide beta-galactosidase deficiency |
| Variation | info |
| Gene | GALC |
| CLNDBN | Galactosylceramide beta-galactosidase deficiency |
| Reversed | 1 |
| HGVS | NC_000014.8:g.88407777A>C |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000023589.2, |
