rs786204507
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs786204507(-;-) |
Make rs786204507(-;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 17 |
Position | 80108385 |
Gene | GAA |
is a | snp |
is | mentioned by |
dbSNP | rs786204507 |
dbSNP (classic) | rs786204507 |
ClinGen | rs786204507 |
ebi | rs786204507 |
HLI | rs786204507 |
Exac | rs786204507 |
Gnomad | rs786204507 |
Varsome | rs786204507 |
LitVar | rs786204507 |
Map | rs786204507 |
PheGenI | rs786204507 |
Biobank | rs786204507 |
1000 genomes | rs786204507 |
hgdp | rs786204507 |
ensembl | rs786204507 |
geneview | rs786204507 |
scholar | rs786204507 |
rs786204507 | |
pharmgkb | rs786204507 |
gwascentral | rs786204507 |
openSNP | rs786204507 |
23andMe | rs786204507 |
SNPshot | rs786204507 |
SNPdbe | rs786204507 |
MSV3d | rs786204507 |
GWAS Ctlg | rs786204507 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786204507(-;-) |
Alt | rs786204507(-;-) |
Reference | Rs786204507(G;G) |
Significance | Other |
Disease | Glycogen storage disease |
Variation | info |
Gene | GAA |
CLNDBN | Glycogen storage disease, type II |
Reversed | 0 |
HGVS | NC_000017.10:g.78082184delG |
CLNSRC | |
CLNACC | RCV000169190.2, |