rs786204598
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;GGTA) | 3 | Carrier of a hereditary fructose intolerance mutation |
(GGTA;GGTA) | 0 | common in clinvar |
Make rs786204598(-;-) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 9 |
Position | 101429964 |
Gene | ALDOB |
is a | snp |
is | mentioned by |
dbSNP | rs786204598 |
dbSNP (classic) | rs786204598 |
ClinGen | rs786204598 |
ebi | rs786204598 |
HLI | rs786204598 |
Exac | rs786204598 |
Gnomad | rs786204598 |
Varsome | rs786204598 |
LitVar | rs786204598 |
Map | rs786204598 |
PheGenI | rs786204598 |
Biobank | rs786204598 |
1000 genomes | rs786204598 |
hgdp | rs786204598 |
ensembl | rs786204598 |
geneview | rs786204598 |
scholar | rs786204598 |
rs786204598 | |
pharmgkb | rs786204598 |
gwascentral | rs786204598 |
openSNP | rs786204598 |
23andMe | rs786204598 |
SNPshot | rs786204598 |
SNPdbe | rs786204598 |
MSV3d | rs786204598 |
GWAS Ctlg | rs786204598 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs786204598(-;-) |
Alt | rs786204598(-;-) |
Reference | Rs786204598(GGTA;GGTA) |
Significance | Probable-Pathogenic |
Disease | Hereditary fructosuria |
Variation | info |
Gene | ALDOB |
CLNDBN | Hereditary fructosuria |
Reversed | 1 |
HGVS | NC_000009.11:g.104192246_104192249delTACC |
CLNSRC | |
CLNACC | RCV000169352.1, |