rs111033662
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(CT;CT) | 0 | common in clinvar |
Make rs111033662(-;-) |
Make rs111033662(-;CT) |
Reference | GRCh38 38.1/141 |
Chromosome | 9 |
Position | 34647226 |
Gene | GALT |
is a | snp |
is | mentioned by |
dbSNP | rs111033662 |
dbSNP (classic) | rs111033662 |
ClinGen | rs111033662 |
ebi | rs111033662 |
HLI | rs111033662 |
Exac | rs111033662 |
Gnomad | rs111033662 |
Varsome | rs111033662 |
LitVar | rs111033662 |
Map | rs111033662 |
PheGenI | rs111033662 |
Biobank | rs111033662 |
1000 genomes | rs111033662 |
hgdp | rs111033662 |
ensembl | rs111033662 |
geneview | rs111033662 |
scholar | rs111033662 |
rs111033662 | |
pharmgkb | rs111033662 |
gwascentral | rs111033662 |
openSNP | rs111033662 |
23andMe | rs111033662 |
SNPshot | rs111033662 |
SNPdbe | rs111033662 |
MSV3d | rs111033662 |
GWAS Ctlg | rs111033662 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs111033662(-;-) |
Alt | rs111033662(-;-) |
Reference | Rs111033662(CT;CT) |
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.34647223_34647224delCT |
CLNSRC | ClinVar |
CLNACC | RCV000032010.1, |