rs367543265
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs367543265(A;A) |
| Make rs367543265(A;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 9 |
| Position | 34649425 |
| Gene | GALT |
| is a | snp |
| is | mentioned by |
| dbSNP | rs367543265 |
| dbSNP (classic) | rs367543265 |
| ClinGen | rs367543265 |
| ebi | rs367543265 |
| HLI | rs367543265 |
| Exac | rs367543265 |
| Gnomad | rs367543265 |
| Varsome | rs367543265 |
| LitVar | rs367543265 |
| Map | rs367543265 |
| PheGenI | rs367543265 |
| Biobank | rs367543265 |
| 1000 genomes | rs367543265 |
| hgdp | rs367543265 |
| ensembl | rs367543265 |
| geneview | rs367543265 |
| scholar | rs367543265 |
| rs367543265 | |
| pharmgkb | rs367543265 |
| gwascentral | rs367543265 |
| openSNP | rs367543265 |
| 23andMe | rs367543265 |
| SNPshot | rs367543265 |
| SNPdbe | rs367543265 |
| MSV3d | rs367543265 |
| GWAS Ctlg | rs367543265 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs367543265(A;A) |
| Alt | rs367543265(A;A) |
| Reference | Rs367543265(C;C) |
| Significance | Pathogenic |
| 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.34649422C>A |
| CLNSRC | ARUP GALT |
| CLNACC | RCV000022231.1, |
[PMID 8598637] Mutations in the galactose-1-phosphate uridyltransferase gene of two families with mild galactosaemia variants.
