rs113994131
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs113994131(C;T) |
Make rs113994131(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 99902776 |
Gene | AGL |
is a | snp |
is | mentioned by |
dbSNP | rs113994131 |
dbSNP (classic) | rs113994131 |
ClinGen | rs113994131 |
ebi | rs113994131 |
HLI | rs113994131 |
Exac | rs113994131 |
Gnomad | rs113994131 |
Varsome | rs113994131 |
LitVar | rs113994131 |
Map | rs113994131 |
PheGenI | rs113994131 |
Biobank | rs113994131 |
1000 genomes | rs113994131 |
hgdp | rs113994131 |
ensembl | rs113994131 |
geneview | rs113994131 |
scholar | rs113994131 |
rs113994131 | |
pharmgkb | rs113994131 |
gwascentral | rs113994131 |
openSNP | rs113994131 |
23andMe | rs113994131 |
SNPshot | rs113994131 |
SNPdbe | rs113994131 |
MSV3d | rs113994131 |
GWAS Ctlg | rs113994131 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs113994131(A;A) rs113994131(T;T) |
Alt | rs113994131(A;A) rs113994131(T;T) |
Reference | Rs113994131(C;C) |
Significance | Pathogenic |
Disease | Glycogen storage disease type III |
Variation | info |
Gene | AGL |
CLNDBN | Glycogen storage disease type III |
Reversed | 0 |
HGVS | NC_000001.10:g.100368332C>T |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000020377.2, |