rs794727838
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs794727838(C;T) |
Make rs794727838(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 9 |
Position | 34648341 |
Gene | GALT |
is a | snp |
is | mentioned by |
dbSNP | rs794727838 |
dbSNP (classic) | rs794727838 |
ClinGen | rs794727838 |
ebi | rs794727838 |
HLI | rs794727838 |
Exac | rs794727838 |
Gnomad | rs794727838 |
Varsome | rs794727838 |
LitVar | rs794727838 |
Map | rs794727838 |
PheGenI | rs794727838 |
Biobank | rs794727838 |
1000 genomes | rs794727838 |
hgdp | rs794727838 |
ensembl | rs794727838 |
geneview | rs794727838 |
scholar | rs794727838 |
rs794727838 | |
pharmgkb | rs794727838 |
gwascentral | rs794727838 |
openSNP | rs794727838 |
23andMe | rs794727838 |
SNPshot | rs794727838 |
SNPdbe | rs794727838 |
MSV3d | rs794727838 |
GWAS Ctlg | rs794727838 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs794727838(T;T) |
Alt | rs794727838(T;T) |
Reference | Rs794727838(C;C) |
Significance | Probable-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.34648338C>T |
CLNSRC | |
CLNACC | RCV000179721.1, |