rs794727255
From SNPedia
Merged into | rs113994127 |
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AG;AG) | 0 | common in clinvar |
Make rs794727255(-;-) |
Make rs794727255(-;GA) |
Make rs794727255(GA;GA) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 1 |
Position | 99851060 |
Gene | AGL |
is a | snp |
is | mentioned by |
dbSNP | rs794727255 |
dbSNP (classic) | rs794727255 |
ClinGen | rs794727255 |
ebi | rs794727255 |
HLI | rs794727255 |
Exac | rs794727255 |
Gnomad | rs794727255 |
Varsome | rs794727255 |
LitVar | rs794727255 |
Map | rs794727255 |
PheGenI | rs794727255 |
Biobank | rs794727255 |
1000 genomes | rs794727255 |
hgdp | rs794727255 |
ensembl | rs794727255 |
geneview | rs794727255 |
scholar | rs794727255 |
rs794727255 | |
pharmgkb | rs794727255 |
gwascentral | rs794727255 |
openSNP | rs794727255 |
23andMe | rs794727255 |
SNPshot | rs794727255 |
SNPdbe | rs794727255 |
MSV3d | rs794727255 |
GWAS Ctlg | rs794727255 |
Status | Merged into rs113994127 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | |
Alt | |
Reference | Rs794727255(AG;AG) |
Significance | Pathogenic |
Disease | Glycogen storage disease IIIb Glycogen storage disease type III |
Variation | info |
Gene | AGL |
CLNDBN | Glycogen storage disease IIIb Glycogen storage disease type III |
Reversed | 0 |
HGVS | NC_000001.10:g.100316616_100316617delGA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000001155.3, RCV000175637.2, |