rs781088002
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs781088002(-;-) |
Make rs781088002(-;C) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 17 |
Position | 80112650 |
Gene | GAA |
is a | snp |
is | mentioned by |
dbSNP | rs781088002 |
dbSNP (classic) | rs781088002 |
ClinGen | rs781088002 |
ebi | rs781088002 |
HLI | rs781088002 |
Exac | rs781088002 |
Gnomad | rs781088002 |
Varsome | rs781088002 |
LitVar | rs781088002 |
Map | rs781088002 |
PheGenI | rs781088002 |
Biobank | rs781088002 |
1000 genomes | rs781088002 |
hgdp | rs781088002 |
ensembl | rs781088002 |
geneview | rs781088002 |
scholar | rs781088002 |
rs781088002 | |
pharmgkb | rs781088002 |
gwascentral | rs781088002 |
openSNP | rs781088002 |
23andMe | rs781088002 |
SNPshot | rs781088002 |
SNPdbe | rs781088002 |
MSV3d | rs781088002 |
GWAS Ctlg | rs781088002 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs781088002(-;-) |
Alt | rs781088002(-;-) |
Reference | Rs781088002(C;C) |
Significance | Other |
Disease | Glycogen storage disease |
Variation | info |
Gene | GAA |
CLNDBN | Glycogen storage disease, type II |
Reversed | 0 |
HGVS | NC_000017.10:g.78086449delC |
CLNSRC | |
CLNACC | RCV000169308.2, |