rs786204616
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs786204616(-;G) |
Make rs786204616(G;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 1 |
Position | 99876565 |
Gene | AGL |
is a | snp |
is | mentioned by |
dbSNP | rs786204616 |
dbSNP (classic) | rs786204616 |
ClinGen | rs786204616 |
ebi | rs786204616 |
HLI | rs786204616 |
Exac | rs786204616 |
Gnomad | rs786204616 |
Varsome | rs786204616 |
LitVar | rs786204616 |
Map | rs786204616 |
PheGenI | rs786204616 |
Biobank | rs786204616 |
1000 genomes | rs786204616 |
hgdp | rs786204616 |
ensembl | rs786204616 |
geneview | rs786204616 |
scholar | rs786204616 |
rs786204616 | |
pharmgkb | rs786204616 |
gwascentral | rs786204616 |
openSNP | rs786204616 |
23andMe | rs786204616 |
SNPshot | rs786204616 |
SNPdbe | rs786204616 |
MSV3d | rs786204616 |
GWAS Ctlg | rs786204616 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786204616(G;G) |
Alt | rs786204616(G;G) |
Reference | Rs786204616(-;-) |
Significance | Probable-Pathogenic |
Disease | Glycogen storage disease type III |
Variation | info |
Gene | AGL |
CLNDBN | Glycogen storage disease type III |
Reversed | 0 |
HGVS | NC_000001.10:g.100342121dupG |
CLNSRC | |
CLNACC | RCV000169381.1, |