rs387906226
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;CTGGTA) | 3 | Carrier of a hereditary fructose intolerance mutation |
(CTGGTA;CTGGTA) | 0 | common/normal |
(TGGTAC;TGGTAC) | 0 | common in clinvar |
Make rs387906226(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 9 |
Position | 101426627 |
Gene | ALDOB |
is a | snp |
is | mentioned by |
dbSNP | rs387906226 |
dbSNP (classic) | rs387906226 |
ClinGen | rs387906226 |
ebi | rs387906226 |
HLI | rs387906226 |
Exac | rs387906226 |
Gnomad | rs387906226 |
Varsome | rs387906226 |
LitVar | rs387906226 |
Map | rs387906226 |
PheGenI | rs387906226 |
Biobank | rs387906226 |
1000 genomes | rs387906226 |
hgdp | rs387906226 |
ensembl | rs387906226 |
geneview | rs387906226 |
scholar | rs387906226 |
rs387906226 | |
pharmgkb | rs387906226 |
gwascentral | rs387906226 |
openSNP | rs387906226 |
23andMe | rs387906226 |
SNPshot | rs387906226 |
SNPdbe | rs387906226 |
MSV3d | rs387906226 |
GWAS Ctlg | rs387906226 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs387906226(-;-) |
Alt | rs387906226(-;-) |
Reference | Rs387906226(TGGTAC;TGGTAC) |
Significance | Pathogenic |
Disease | Hereditary fructosuria |
Variation | info |
Gene | ALDOB |
CLNDBN | Hereditary fructosuria |
Reversed | 1 |
HGVS | NC_000009.11:g.104188909_104188914delTACCAG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000000503.2, |