rs118204430
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;T) | 3 | Carrier of a hereditary fructose intolerance mutation |
(T;T) | 0 | common in clinvar |
Make rs118204430(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 9 |
Position | 101427580 |
Gene | ALDOB |
is a | snp |
is | mentioned by |
dbSNP | rs118204430 |
dbSNP (classic) | rs118204430 |
ClinGen | rs118204430 |
ebi | rs118204430 |
HLI | rs118204430 |
Exac | rs118204430 |
Gnomad | rs118204430 |
Varsome | rs118204430 |
LitVar | rs118204430 |
Map | rs118204430 |
PheGenI | rs118204430 |
Biobank | rs118204430 |
1000 genomes | rs118204430 |
hgdp | rs118204430 |
ensembl | rs118204430 |
geneview | rs118204430 |
scholar | rs118204430 |
rs118204430 | |
pharmgkb | rs118204430 |
gwascentral | rs118204430 |
openSNP | rs118204430 |
23andMe | rs118204430 |
SNPshot | rs118204430 |
SNPdbe | rs118204430 |
MSV3d | rs118204430 |
GWAS Ctlg | rs118204430 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs118204430(C;C) rs118204430(G;G) |
Alt | rs118204430(C;C) rs118204430(G;G) |
Reference | Rs118204430(T;T) |
Significance | Pathogenic |
Disease | Hereditary fructosuria |
Variation | info |
Gene | ALDOB |
CLNDBN | Hereditary fructosuria |
Reversed | 1 |
HGVS | NC_000009.11:g.104189862A>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000000504.3, |