rs111033649
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs111033649(C;T) |
Make rs111033649(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 9 |
Position | 34647166 |
Gene | GALT |
is a | snp |
is | mentioned by |
dbSNP | rs111033649 |
dbSNP (classic) | rs111033649 |
ClinGen | rs111033649 |
ebi | rs111033649 |
HLI | rs111033649 |
Exac | rs111033649 |
Gnomad | rs111033649 |
Varsome | rs111033649 |
LitVar | rs111033649 |
Map | rs111033649 |
PheGenI | rs111033649 |
Biobank | rs111033649 |
1000 genomes | rs111033649 |
hgdp | rs111033649 |
ensembl | rs111033649 |
geneview | rs111033649 |
scholar | rs111033649 |
rs111033649 | |
pharmgkb | rs111033649 |
gwascentral | rs111033649 |
openSNP | rs111033649 |
23andMe | rs111033649 |
SNPshot | rs111033649 |
SNPdbe | rs111033649 |
MSV3d | rs111033649 |
GWAS Ctlg | rs111033649 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs111033649(T;T) |
Alt | rs111033649(T;T) |
Reference | Rs111033649(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.34647163C>T |
CLNSRC | ARUP GALT |
CLNACC | RCV000022062.1, |