rs770276275
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(D;D) | 0 | Miscall by Ancestry |
(GAGA;GAGA) | 0 | common in clinvar |
Make rs770276275(-;-) |
Make rs770276275(-;GAGA) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 17 |
Position | 80110029 |
Gene | GAA |
is a | snp |
is | mentioned by |
dbSNP | rs770276275 |
dbSNP (classic) | rs770276275 |
ClinGen | rs770276275 |
ebi | rs770276275 |
HLI | rs770276275 |
Exac | rs770276275 |
Gnomad | rs770276275 |
Varsome | rs770276275 |
LitVar | rs770276275 |
Map | rs770276275 |
PheGenI | rs770276275 |
Biobank | rs770276275 |
1000 genomes | rs770276275 |
hgdp | rs770276275 |
ensembl | rs770276275 |
geneview | rs770276275 |
scholar | rs770276275 |
rs770276275 | |
pharmgkb | rs770276275 |
gwascentral | rs770276275 |
openSNP | rs770276275 |
23andMe | rs770276275 |
SNPshot | rs770276275 |
SNPdbe | rs770276275 |
MSV3d | rs770276275 |
GWAS Ctlg | rs770276275 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs770276275(-;-) |
Alt | rs770276275(-;-) |
Reference | Rs770276275(GAGA;GAGA) |
Significance | Probable-Pathogenic |
Disease | Glycogen storage disease |
Variation | info |
Gene | GAA |
CLNDBN | Glycogen storage disease, type II |
Reversed | 0 |
HGVS | NC_000017.10:g.78083828_78083831delGAGA |
CLNSRC | |
CLNACC | RCV000169228.1, |