rs113994132
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs113994132(-;-) |
Make rs113994132(-;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 99913542 |
Gene | AGL |
is a | snp |
is | mentioned by |
dbSNP | rs113994132 |
dbSNP (classic) | rs113994132 |
ClinGen | rs113994132 |
ebi | rs113994132 |
HLI | rs113994132 |
Exac | rs113994132 |
Gnomad | rs113994132 |
Varsome | rs113994132 |
LitVar | rs113994132 |
Map | rs113994132 |
PheGenI | rs113994132 |
Biobank | rs113994132 |
1000 genomes | rs113994132 |
hgdp | rs113994132 |
ensembl | rs113994132 |
geneview | rs113994132 |
scholar | rs113994132 |
rs113994132 | |
pharmgkb | rs113994132 |
gwascentral | rs113994132 |
openSNP | rs113994132 |
23andMe | rs113994132 |
SNPshot | rs113994132 |
SNPdbe | rs113994132 |
MSV3d | rs113994132 |
GWAS Ctlg | rs113994132 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs113994132(-;-) |
Alt | rs113994132(-;-) |
Reference | Rs113994132(T;T) |
Significance | Pathogenic |
Disease | Glycogen storage disease IIIa Glycogen storage disease type III |
Variation | info |
Gene | AGL |
CLNDBN | Glycogen storage disease IIIa Glycogen storage disease type III |
Reversed | 0 |
HGVS | NC_000001.10:g.100379098delT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000001162.3, RCV000020378.2, |