rs77718928
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 3 | Unaffected carrier of hereditary fructose intolerance allele |
Make rs77718928(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 9 |
Position | 101421891 |
Gene | ALDOB |
is a | snp |
is | mentioned by |
dbSNP | rs77718928 |
dbSNP (classic) | rs77718928 |
ClinGen | rs77718928 |
ebi | rs77718928 |
HLI | rs77718928 |
Exac | rs77718928 |
Gnomad | rs77718928 |
Varsome | rs77718928 |
LitVar | rs77718928 |
Map | rs77718928 |
PheGenI | rs77718928 |
Biobank | rs77718928 |
1000 genomes | rs77718928 |
hgdp | rs77718928 |
ensembl | rs77718928 |
geneview | rs77718928 |
scholar | rs77718928 |
rs77718928 | |
pharmgkb | rs77718928 |
gwascentral | rs77718928 |
openSNP | rs77718928 |
23andMe | rs77718928 |
SNPshot | rs77718928 |
SNPdbe | rs77718928 |
MSV3d | rs77718928 |
GWAS Ctlg | rs77718928 |
Max Magnitude | 3 |
aka c.1013C>T (p.Ala338Val)
FTDNA & MyHeritage name: VG09S31531
ClinVar | |
---|---|
Risk | rs77718928(G;G) rs77718928(T;T) |
Alt | rs77718928(G;G) rs77718928(T;T) |
Reference | Rs77718928(C;C) |
Significance | Probable-Pathogenic |
Disease | Hereditary fructosuria |
Variation | info |
Gene | ALDOB |
CLNDBN | Hereditary fructosuria |
Reversed | 1 |
HGVS | NC_000009.11:g.104184173G>A |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000169047.1, |