rs118204425
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;CTT) | 3 | Carrier of a hereditary fructose intolerance mutation |
(CTT;CTT) | 0 | common in clinvar |
Make rs118204425(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 9 |
Position | 101424975 |
Gene | ALDOB |
is a | snp |
is | mentioned by |
dbSNP | rs118204425 |
dbSNP (classic) | rs118204425 |
ClinGen | rs118204425 |
ebi | rs118204425 |
HLI | rs118204425 |
Exac | rs118204425 |
Gnomad | rs118204425 |
Varsome | rs118204425 |
LitVar | rs118204425 |
Map | rs118204425 |
PheGenI | rs118204425 |
Biobank | rs118204425 |
1000 genomes | rs118204425 |
hgdp | rs118204425 |
ensembl | rs118204425 |
geneview | rs118204425 |
scholar | rs118204425 |
rs118204425 | |
pharmgkb | rs118204425 |
gwascentral | rs118204425 |
openSNP | rs118204425 |
23andMe | rs118204425 |
SNPshot | rs118204425 |
SNPdbe | rs118204425 |
MSV3d | rs118204425 |
GWAS Ctlg | rs118204425 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs118204425(-;-) |
Alt | rs118204425(-;-) |
Reference | Rs118204425(CTT;CTT) |
Significance | Pathogenic |
Disease | Hereditary fructosuria |
Variation | info |
Gene | ALDOB |
CLNDBN | Hereditary fructosuria |
Reversed | 1 |
HGVS | NC_000009.11:g.104187257_104187259delAAG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000000495.3, |