rs864309533
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;C) | 3 | Carrier of a hereditary fructose intolerance mutation |
(C;C) | 0 | common in clinvar |
Make rs864309533(-;-) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 9 |
Position | 101424977 |
Gene | ALDOB |
is a | snp |
is | mentioned by |
dbSNP | rs864309533 |
dbSNP (classic) | rs864309533 |
ClinGen | rs864309533 |
ebi | rs864309533 |
HLI | rs864309533 |
Exac | rs864309533 |
Gnomad | rs864309533 |
Varsome | rs864309533 |
LitVar | rs864309533 |
Map | rs864309533 |
PheGenI | rs864309533 |
Biobank | rs864309533 |
1000 genomes | rs864309533 |
hgdp | rs864309533 |
ensembl | rs864309533 |
geneview | rs864309533 |
scholar | rs864309533 |
rs864309533 | |
pharmgkb | rs864309533 |
gwascentral | rs864309533 |
openSNP | rs864309533 |
23andMe | rs864309533 |
SNPshot | rs864309533 |
SNPdbe | rs864309533 |
MSV3d | rs864309533 |
GWAS Ctlg | rs864309533 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs864309533(-;-) |
Alt | rs864309533(-;-) |
Reference | Rs864309533(C;C) |
Significance | Pathogenic |
Disease | Hereditary fructosuria |
Variation | info |
Gene | ALDOB |
CLNDBN | Hereditary fructosuria |
Reversed | 1 |
HGVS | NC_000009.11:g.104187259delG |
CLNSRC | |
CLNACC | RCV000202634.1, |