rs121908010
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| (G;T) | 3 | carrier for one Krabbe disease allele |
| (T;T) | 6 | Krabbe disease (likely) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 14 |
| Position | 87963392 |
| Gene | GALC |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121908010 |
| dbSNP (classic) | rs121908010 |
| ClinGen | rs121908010 |
| ebi | rs121908010 |
| HLI | rs121908010 |
| Exac | rs121908010 |
| Gnomad | rs121908010 |
| Varsome | rs121908010 |
| LitVar | rs121908010 |
| Map | rs121908010 |
| PheGenI | rs121908010 |
| Biobank | rs121908010 |
| 1000 genomes | rs121908010 |
| hgdp | rs121908010 |
| ensembl | rs121908010 |
| geneview | rs121908010 |
| scholar | rs121908010 |
| rs121908010 | |
| pharmgkb | rs121908010 |
| gwascentral | rs121908010 |
| openSNP | rs121908010 |
| 23andMe | rs121908010 |
| SNPshot | rs121908010 |
| SNPdbe | rs121908010 |
| MSV3d | rs121908010 |
| GWAS Ctlg | rs121908010 |
| Max Magnitude | 6 |
aka c.1153G>T, p.Glu385Ter
Identified in ClinVar as pathogenic for Krabbe disease (when inherited in two copies or as a compound heterozygote)
| ClinVar | |
|---|---|
| Risk | Rs121908010(T;T) |
| Alt | Rs121908010(T;T) |
| Reference | Rs121908010(G;G) |
| Significance | Pathogenic |
| Disease | Galactosylceramide beta-galactosidase deficiency |
| Variation | info |
| Gene | GALC |
| CLNDBN | Galactosylceramide beta-galactosidase deficiency |
| Reversed | 1 |
| HGVS | NC_000014.8:g.88429736C>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000004022.2, |
