rs1057517421
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs1057517421(-;-) |
Make rs1057517421(-;A) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 9 |
Position | 101427602 |
Gene | ALDOB |
is a | snp |
is | mentioned by |
dbSNP | rs1057517421 |
dbSNP (classic) | rs1057517421 |
ClinGen | rs1057517421 |
ebi | rs1057517421 |
HLI | rs1057517421 |
Exac | rs1057517421 |
Gnomad | rs1057517421 |
Varsome | rs1057517421 |
LitVar | rs1057517421 |
Map | rs1057517421 |
PheGenI | rs1057517421 |
Biobank | rs1057517421 |
1000 genomes | rs1057517421 |
hgdp | rs1057517421 |
ensembl | rs1057517421 |
geneview | rs1057517421 |
scholar | rs1057517421 |
rs1057517421 | |
pharmgkb | rs1057517421 |
gwascentral | rs1057517421 |
openSNP | rs1057517421 |
23andMe | rs1057517421 |
SNPshot | rs1057517421 |
SNPdbe | rs1057517421 |
MSV3d | rs1057517421 |
GWAS Ctlg | rs1057517421 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057517421(-;-) |
Alt | rs1057517421(-;-) |
Reference | Rs1057517421(A;A) |
Significance | Probable-Pathogenic |
Disease | Hereditary fructosuria |
Variation | info |
Gene | ALDOB |
CLNDBN | Hereditary fructosuria |
Reversed | 1 |
HGVS | NC_000009.11:g.104189884delT |
CLNSRC | |
CLNACC | RCV000411375.1, |