rs786204503
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;G) | 3 | Carrier of a hereditary fructose intolerance mutation |
Make rs786204503(G;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 9 |
Position | 101425629 |
Gene | ALDOB |
is a | snp |
is | mentioned by |
dbSNP | rs786204503 |
dbSNP (classic) | rs786204503 |
ClinGen | rs786204503 |
ebi | rs786204503 |
HLI | rs786204503 |
Exac | rs786204503 |
Gnomad | rs786204503 |
Varsome | rs786204503 |
LitVar | rs786204503 |
Map | rs786204503 |
PheGenI | rs786204503 |
Biobank | rs786204503 |
1000 genomes | rs786204503 |
hgdp | rs786204503 |
ensembl | rs786204503 |
geneview | rs786204503 |
scholar | rs786204503 |
rs786204503 | |
pharmgkb | rs786204503 |
gwascentral | rs786204503 |
openSNP | rs786204503 |
23andMe | rs786204503 |
SNPshot | rs786204503 |
SNPdbe | rs786204503 |
MSV3d | rs786204503 |
GWAS Ctlg | rs786204503 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs786204503(G;G) |
Alt | rs786204503(G;G) |
Reference | Rs786204503(A;A) |
Significance | Probable-Pathogenic |
Disease | Hereditary fructosuria |
Variation | info |
Gene | ALDOB |
CLNDBN | Hereditary fructosuria |
Reversed | 1 |
HGVS | NC_000009.11:g.104187911T>C |
CLNSRC | |
CLNACC | RCV000169186.1, |