rs370792293
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs370792293(A;G) |
Make rs370792293(G;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 1 |
Position | 99864592 |
Gene | AGL |
is a | snp |
is | mentioned by |
dbSNP | rs370792293 |
dbSNP (classic) | rs370792293 |
ClinGen | rs370792293 |
ebi | rs370792293 |
HLI | rs370792293 |
Exac | rs370792293 |
Gnomad | rs370792293 |
Varsome | rs370792293 |
LitVar | rs370792293 |
Map | rs370792293 |
PheGenI | rs370792293 |
Biobank | rs370792293 |
1000 genomes | rs370792293 |
hgdp | rs370792293 |
ensembl | rs370792293 |
geneview | rs370792293 |
scholar | rs370792293 |
rs370792293 | |
pharmgkb | rs370792293 |
gwascentral | rs370792293 |
openSNP | rs370792293 |
23andMe | rs370792293 |
SNPshot | rs370792293 |
SNPdbe | rs370792293 |
MSV3d | rs370792293 |
GWAS Ctlg | rs370792293 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs370792293(G;G) |
Alt | rs370792293(G;G) |
Reference | Rs370792293(A;A) |
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.100330148A>G |
CLNSRC | |
CLNACC | RCV000169374.1, |