rs750026492
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs750026492(C;T) |
Make rs750026492(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 9 |
Position | 101429755 |
Gene | ALDOB |
is a | snp |
is | mentioned by |
dbSNP | rs750026492 |
dbSNP (classic) | rs750026492 |
ClinGen | rs750026492 |
ebi | rs750026492 |
HLI | rs750026492 |
Exac | rs750026492 |
Gnomad | rs750026492 |
Varsome | rs750026492 |
LitVar | rs750026492 |
Map | rs750026492 |
PheGenI | rs750026492 |
Biobank | rs750026492 |
1000 genomes | rs750026492 |
hgdp | rs750026492 |
ensembl | rs750026492 |
geneview | rs750026492 |
scholar | rs750026492 |
rs750026492 | |
pharmgkb | rs750026492 |
gwascentral | rs750026492 |
openSNP | rs750026492 |
23andMe | rs750026492 |
SNPshot | rs750026492 |
SNPdbe | rs750026492 |
MSV3d | rs750026492 |
GWAS Ctlg | rs750026492 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs750026492(T;T) |
Alt | rs750026492(T;T) |
Reference | Rs750026492(C;C) |
Significance | Probable-Pathogenic |
Disease | Hereditary fructosuria |
Variation | info |
Gene | ALDOB |
CLNDBN | Hereditary fructosuria |
Reversed | 0 |
HGVS | NC_000009.11:g.104192037C>T |
CLNSRC | |
CLNACC | RCV000169107.1, |