rs786204490
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs786204490(A;A) |
Make rs786204490(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 1 |
Position | 99896323 |
Gene | AGL |
is a | snp |
is | mentioned by |
dbSNP | rs786204490 |
dbSNP (classic) | rs786204490 |
ClinGen | rs786204490 |
ebi | rs786204490 |
HLI | rs786204490 |
Exac | rs786204490 |
Gnomad | rs786204490 |
Varsome | rs786204490 |
LitVar | rs786204490 |
Map | rs786204490 |
PheGenI | rs786204490 |
Biobank | rs786204490 |
1000 genomes | rs786204490 |
hgdp | rs786204490 |
ensembl | rs786204490 |
geneview | rs786204490 |
scholar | rs786204490 |
rs786204490 | |
pharmgkb | rs786204490 |
gwascentral | rs786204490 |
openSNP | rs786204490 |
23andMe | rs786204490 |
SNPshot | rs786204490 |
SNPdbe | rs786204490 |
MSV3d | rs786204490 |
GWAS Ctlg | rs786204490 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786204490(A;A) |
Alt | rs786204490(A;A) |
Reference | Rs786204490(G;G) |
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.100361879G>A |
CLNSRC | |
CLNACC | RCV000169157.1, |