rs111033737
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs111033737(C;T) |
| Make rs111033737(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 9 |
| Position | 34648379 |
| Gene | GALT |
| is a | snp |
| is | mentioned by |
| dbSNP | rs111033737 |
| dbSNP (classic) | rs111033737 |
| ClinGen | rs111033737 |
| ebi | rs111033737 |
| HLI | rs111033737 |
| Exac | rs111033737 |
| Gnomad | rs111033737 |
| Varsome | rs111033737 |
| LitVar | rs111033737 |
| Map | rs111033737 |
| PheGenI | rs111033737 |
| Biobank | rs111033737 |
| 1000 genomes | rs111033737 |
| hgdp | rs111033737 |
| ensembl | rs111033737 |
| geneview | rs111033737 |
| scholar | rs111033737 |
| rs111033737 | |
| pharmgkb | rs111033737 |
| gwascentral | rs111033737 |
| openSNP | rs111033737 |
| 23andMe | rs111033737 |
| SNPshot | rs111033737 |
| SNPdbe | rs111033737 |
| MSV3d | rs111033737 |
| GWAS Ctlg | rs111033737 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs111033737(T;T) |
| Alt | rs111033737(T;T) |
| Reference | Rs111033737(C;C) |
| Significance | Other |
| Disease | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase |
| Variation | info |
| Gene | GALT |
| CLNDBN | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase |
| Reversed | 0 |
| HGVS | NC_000009.11:g.34648376C>T |
| CLNSRC | HGMD |
| CLNACC | RCV000022164.6, |
[PMID 10408] Electrochemistry of drug action I: electrooreduction of ferredoxins.
[PMID 11216901] Galactosaemia and allelic variation at the galactose-1-phosphate uridyltransferase gene: a complex relationship between genotype and phenotype.
[PMID 12595586] Verbal dyspraxia and galactosemia.
[PMID 18210213] A yeast model reveals biochemical severity associated with each of three variant alleles of galactose-1P uridylyltransferase segregating in a single family.
[PMID 19224951
] Origins, distribution and expression of the Duarte-2 (D2) allele of galactose-1-phosphate uridylyltransferase.
[PMID 19375122] An update on the molecular analysis of classical galactosaemia patients diagnosed in Spain and Portugal: 7 new mutations in 17 new families.
