rs111033772
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs111033772(C;G) |
Make rs111033772(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 9 |
Position | 34649021 |
Gene | GALT |
is a | snp |
is | mentioned by |
dbSNP | rs111033772 |
dbSNP (classic) | rs111033772 |
ClinGen | rs111033772 |
ebi | rs111033772 |
HLI | rs111033772 |
Exac | rs111033772 |
Gnomad | rs111033772 |
Varsome | rs111033772 |
LitVar | rs111033772 |
Map | rs111033772 |
PheGenI | rs111033772 |
Biobank | rs111033772 |
1000 genomes | rs111033772 |
hgdp | rs111033772 |
ensembl | rs111033772 |
geneview | rs111033772 |
scholar | rs111033772 |
rs111033772 | |
pharmgkb | rs111033772 |
gwascentral | rs111033772 |
openSNP | rs111033772 |
23andMe | rs111033772 |
SNPshot | rs111033772 |
SNPdbe | rs111033772 |
MSV3d | rs111033772 |
GWAS Ctlg | rs111033772 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs111033772(G;G) |
Alt | rs111033772(G;G) |
Reference | Rs111033772(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.34649018C>G |
CLNSRC | HGMD UniProtKB (protein) |
CLNACC | RCV000022218.6, |