rs118204428
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 3 | Carrier of a hereditary fructose intolerance mutation |
Make rs118204428(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 9 |
Position | 101430878 |
Gene | ALDOB |
is a | snp |
is | mentioned by |
dbSNP | rs118204428 |
dbSNP (classic) | rs118204428 |
ClinGen | rs118204428 |
ebi | rs118204428 |
HLI | rs118204428 |
Exac | rs118204428 |
Gnomad | rs118204428 |
Varsome | rs118204428 |
LitVar | rs118204428 |
Map | rs118204428 |
PheGenI | rs118204428 |
Biobank | rs118204428 |
1000 genomes | rs118204428 |
hgdp | rs118204428 |
ensembl | rs118204428 |
geneview | rs118204428 |
scholar | rs118204428 |
rs118204428 | |
pharmgkb | rs118204428 |
gwascentral | rs118204428 |
openSNP | rs118204428 |
23andMe | rs118204428 |
SNPshot | rs118204428 |
SNPdbe | rs118204428 |
MSV3d | rs118204428 |
GWAS Ctlg | rs118204428 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs118204428(T;T) |
Alt | rs118204428(T;T) |
Reference | Rs118204428(C;C) |
Significance | Other |
Disease | Hereditary fructosuria |
Variation | info |
Gene | ALDOB |
CLNDBN | Hereditary fructosuria |
Reversed | 1 |
HGVS | NC_000009.11:g.104193160G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000000500.4, |