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.