rs1057516567
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs1057516567(G;G) |
Make rs1057516567(G;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 1 |
Position | 99861524 |
Gene | AGL |
is a | snp |
is | mentioned by |
dbSNP | rs1057516567 |
dbSNP (classic) | rs1057516567 |
ClinGen | rs1057516567 |
ebi | rs1057516567 |
HLI | rs1057516567 |
Exac | rs1057516567 |
Gnomad | rs1057516567 |
Varsome | rs1057516567 |
LitVar | rs1057516567 |
Map | rs1057516567 |
PheGenI | rs1057516567 |
Biobank | rs1057516567 |
1000 genomes | rs1057516567 |
hgdp | rs1057516567 |
ensembl | rs1057516567 |
geneview | rs1057516567 |
scholar | rs1057516567 |
rs1057516567 | |
pharmgkb | rs1057516567 |
gwascentral | rs1057516567 |
openSNP | rs1057516567 |
23andMe | rs1057516567 |
SNPshot | rs1057516567 |
SNPdbe | rs1057516567 |
MSV3d | rs1057516567 |
GWAS Ctlg | rs1057516567 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057516567(G;G) |
Alt | rs1057516567(G;G) |
Reference | Rs1057516567(T;T) |
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.100327080T>G |
CLNSRC | |
CLNACC | RCV000410214.1, |