rs111033796
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs111033796(G;G) |
Make rs111033796(G;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 9 |
Position | 34649472 |
Gene | GALT |
is a | snp |
is | mentioned by |
dbSNP | rs111033796 |
dbSNP (classic) | rs111033796 |
ClinGen | rs111033796 |
ebi | rs111033796 |
HLI | rs111033796 |
Exac | rs111033796 |
Gnomad | rs111033796 |
Varsome | rs111033796 |
LitVar | rs111033796 |
Map | rs111033796 |
PheGenI | rs111033796 |
Biobank | rs111033796 |
1000 genomes | rs111033796 |
hgdp | rs111033796 |
ensembl | rs111033796 |
geneview | rs111033796 |
scholar | rs111033796 |
rs111033796 | |
pharmgkb | rs111033796 |
gwascentral | rs111033796 |
openSNP | rs111033796 |
23andMe | rs111033796 |
SNPshot | rs111033796 |
SNPdbe | rs111033796 |
MSV3d | rs111033796 |
GWAS Ctlg | rs111033796 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs111033796(C;C) rs111033796(G;G) |
Alt | rs111033796(C;C) rs111033796(G;G) |
Reference | Rs111033796(T;T) |
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.34649469T>C; NC_000009.11:g.34649469T>G |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000022246.1, RCV000022245.1, |