rs764826805
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 3 | Carrier of a hereditary fructose intolerance mutation |
Make rs764826805(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 9 |
Position | 101429754 |
Gene | ALDOB |
is a | snp |
is | mentioned by |
dbSNP | rs764826805 |
dbSNP (classic) | rs764826805 |
ClinGen | rs764826805 |
ebi | rs764826805 |
HLI | rs764826805 |
Exac | rs764826805 |
Gnomad | rs764826805 |
Varsome | rs764826805 |
LitVar | rs764826805 |
Map | rs764826805 |
PheGenI | rs764826805 |
Biobank | rs764826805 |
1000 genomes | rs764826805 |
hgdp | rs764826805 |
ensembl | rs764826805 |
geneview | rs764826805 |
scholar | rs764826805 |
rs764826805 | |
pharmgkb | rs764826805 |
gwascentral | rs764826805 |
openSNP | rs764826805 |
23andMe | rs764826805 |
SNPshot | rs764826805 |
SNPdbe | rs764826805 |
MSV3d | rs764826805 |
GWAS Ctlg | rs764826805 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs764826805(T;T) |
Alt | rs764826805(T;T) |
Reference | Rs764826805(C;C) |
Significance | Pathogenic |
Disease | Hereditary fructosuria |
Variation | info |
Gene | ALDOB |
CLNDBN | Hereditary fructosuria |
Reversed | 0 |
HGVS | NC_000009.11:g.104192036C>T |
CLNSRC | |
CLNACC | RCV000202622.1, |