rs111033608
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs111033608(C;T) |
| Make rs111033608(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 75758091 |
| Gene | GALK1, ITGB4 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs111033608 |
| dbSNP (classic) | rs111033608 |
| ClinGen | rs111033608 |
| ebi | rs111033608 |
| HLI | rs111033608 |
| Exac | rs111033608 |
| Gnomad | rs111033608 |
| Varsome | rs111033608 |
| LitVar | rs111033608 |
| Map | rs111033608 |
| PheGenI | rs111033608 |
| Biobank | rs111033608 |
| 1000 genomes | rs111033608 |
| hgdp | rs111033608 |
| ensembl | rs111033608 |
| geneview | rs111033608 |
| scholar | rs111033608 |
| rs111033608 | |
| pharmgkb | rs111033608 |
| gwascentral | rs111033608 |
| openSNP | rs111033608 |
| 23andMe | rs111033608 |
| SNPshot | rs111033608 |
| SNPdbe | rs111033608 |
| MSV3d | rs111033608 |
| GWAS Ctlg | rs111033608 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs111033608(T;T) |
| Alt | rs111033608(T;T) |
| Reference | Rs111033608(C;C) |
| Significance | Pathogenic |
| Disease | Deficiency of galactokinase |
| Variation | info |
| Gene | ITGB4 GALK1 |
| CLNDBN | Deficiency of galactokinase |
| Reversed | 1 |
| HGVS | NC_000017.10:g.73754172G>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000005985.2, |
