rs367543254
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs367543254(C;C) |
Make rs367543254(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 9 |
Position | 34647664 |
Gene | GALT |
is a | snp |
is | mentioned by |
dbSNP | rs367543254 |
dbSNP (classic) | rs367543254 |
ClinGen | rs367543254 |
ebi | rs367543254 |
HLI | rs367543254 |
Exac | rs367543254 |
Gnomad | rs367543254 |
Varsome | rs367543254 |
LitVar | rs367543254 |
Map | rs367543254 |
PheGenI | rs367543254 |
Biobank | rs367543254 |
1000 genomes | rs367543254 |
hgdp | rs367543254 |
ensembl | rs367543254 |
geneview | rs367543254 |
scholar | rs367543254 |
rs367543254 | |
pharmgkb | rs367543254 |
gwascentral | rs367543254 |
openSNP | rs367543254 |
23andMe | rs367543254 |
SNPshot | rs367543254 |
SNPdbe | rs367543254 |
MSV3d | rs367543254 |
GWAS Ctlg | rs367543254 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs367543254(C;C) |
Alt | rs367543254(C;C) |
Reference | Rs367543254(T;T) |
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.34647661T>C |
CLNSRC | ARUP GALT |
CLNACC | RCV000022088.1, |
[PMID 18956253] Low allelic heterogeneity in a sample of Mexican patients with classical galactosaemia.