rs551439289
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs551439289(A;A) |
Make rs551439289(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 11 |
Position | 119027069 |
Gene | SLC37A4 |
is a | snp |
is | mentioned by |
dbSNP | rs551439289 |
dbSNP (classic) | rs551439289 |
ClinGen | rs551439289 |
ebi | rs551439289 |
HLI | rs551439289 |
Exac | rs551439289 |
Gnomad | rs551439289 |
Varsome | rs551439289 |
LitVar | rs551439289 |
Map | rs551439289 |
PheGenI | rs551439289 |
Biobank | rs551439289 |
1000 genomes | rs551439289 |
hgdp | rs551439289 |
ensembl | rs551439289 |
geneview | rs551439289 |
scholar | rs551439289 |
rs551439289 | |
pharmgkb | rs551439289 |
gwascentral | rs551439289 |
openSNP | rs551439289 |
23andMe | rs551439289 |
SNPshot | rs551439289 |
SNPdbe | rs551439289 |
MSV3d | rs551439289 |
GWAS Ctlg | rs551439289 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs551439289(A;A) |
Alt | rs551439289(A;A) |
Reference | Rs551439289(G;G) |
Significance | Probable-Pathogenic |
Disease | Glucose-6-phosphate transport defect |
Variation | info |
Gene | SLC37A4 |
CLNDBN | Glucose-6-phosphate transport defect |
Reversed | 0 |
HGVS | NC_000011.9:g.118897779G>A |
CLNSRC | |
CLNACC | RCV000169570.1, |