rs111033669
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs111033669(A;G) |
Make rs111033669(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 9 |
Position | 34647529 |
Gene | GALT |
is a | snp |
is | mentioned by |
dbSNP | rs111033669 |
dbSNP (classic) | rs111033669 |
ClinGen | rs111033669 |
ebi | rs111033669 |
HLI | rs111033669 |
Exac | rs111033669 |
Gnomad | rs111033669 |
Varsome | rs111033669 |
LitVar | rs111033669 |
Map | rs111033669 |
PheGenI | rs111033669 |
Biobank | rs111033669 |
1000 genomes | rs111033669 |
hgdp | rs111033669 |
ensembl | rs111033669 |
geneview | rs111033669 |
scholar | rs111033669 |
rs111033669 | |
pharmgkb | rs111033669 |
gwascentral | rs111033669 |
openSNP | rs111033669 |
23andMe | rs111033669 |
SNPshot | rs111033669 |
SNPdbe | rs111033669 |
MSV3d | rs111033669 |
GWAS Ctlg | rs111033669 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs111033669(G;G) |
Alt | rs111033669(G;G) |
Reference | Rs111033669(A;A) |
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.34647526A>G |
CLNSRC | HGMD UniProtKB (protein) |
CLNACC | RCV000022077.4, |