rs145078268
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 rs145078268(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 9 |
Position | 101424931 |
Gene | ALDOB |
is a | snp |
is | mentioned by |
dbSNP | rs145078268 |
dbSNP (classic) | rs145078268 |
ClinGen | rs145078268 |
ebi | rs145078268 |
HLI | rs145078268 |
Exac | rs145078268 |
Gnomad | rs145078268 |
Varsome | rs145078268 |
LitVar | rs145078268 |
Map | rs145078268 |
PheGenI | rs145078268 |
Biobank | rs145078268 |
1000 genomes | rs145078268 |
hgdp | rs145078268 |
ensembl | rs145078268 |
geneview | rs145078268 |
scholar | rs145078268 |
rs145078268 | |
pharmgkb | rs145078268 |
gwascentral | rs145078268 |
openSNP | rs145078268 |
23andMe | rs145078268 |
SNPshot | rs145078268 |
SNPdbe | rs145078268 |
MSV3d | rs145078268 |
GWAS Ctlg | rs145078268 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs145078268(G;G) rs145078268(T;T) |
Alt | rs145078268(G;G) rs145078268(T;T) |
Reference | Rs145078268(C;C) |
Significance | Probable-Pathogenic |
Disease | Hereditary fructosuria |
Variation | info |
Gene | ALDOB |
CLNDBN | Hereditary fructosuria |
Reversed | 0 |
HGVS | NC_000009.11:g.104187213C>T |
CLNSRC | |
CLNACC | RCV000477962.1, |