rs111033762
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(GCATGTGCGGCGG;GCATGTGCGGCGG) | 0 | common in clinvar |
Make rs111033762(-;-) |
Make rs111033762(-;ATGTGCGGCGG) |
Make rs111033762(ATGTGCGGCGG;ATGTGCGGCGG) |
Reference | GRCh38 38.1/142 |
Chromosome | 9 |
Position | 34648852 |
Gene | GALT |
is a | snp |
is | mentioned by |
dbSNP | rs111033762 |
dbSNP (classic) | rs111033762 |
ClinGen | rs111033762 |
ebi | rs111033762 |
HLI | rs111033762 |
Exac | rs111033762 |
Gnomad | rs111033762 |
Varsome | rs111033762 |
LitVar | rs111033762 |
Map | rs111033762 |
PheGenI | rs111033762 |
Biobank | rs111033762 |
1000 genomes | rs111033762 |
hgdp | rs111033762 |
ensembl | rs111033762 |
geneview | rs111033762 |
scholar | rs111033762 |
rs111033762 | |
pharmgkb | rs111033762 |
gwascentral | rs111033762 |
openSNP | rs111033762 |
23andMe | rs111033762 |
SNPshot | rs111033762 |
SNPdbe | rs111033762 |
MSV3d | rs111033762 |
GWAS Ctlg | rs111033762 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs111033762(G;G) rs111033762(GATGTGCGGCGG;GATGTGCGGCGG) |
Alt | rs111033762(G;G) rs111033762(GATGTGCGGCGG;GATGTGCGGCGG) |
Reference | Rs111033762(GCATGTGCGGCGG;GCATGTGCGGCGG) |
Significance | Pathogenic |
Disease | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase |
Variation | info |
Gene | |
CLNDBN | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase |
Reversed | 0 |
HGVS | NC_000009.11:g.34648850_34648861delATGTGCGGCGGC |
CLNSRC | ClinVar |
CLNACC | RCV000022203.1, |