rs199922945
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs199922945(G;T) |
Make rs199922945(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 99880047 |
Gene | AGL |
is a | snp |
is | mentioned by |
dbSNP | rs199922945 |
dbSNP (classic) | rs199922945 |
ClinGen | rs199922945 |
ebi | rs199922945 |
HLI | rs199922945 |
Exac | rs199922945 |
Gnomad | rs199922945 |
Varsome | rs199922945 |
LitVar | rs199922945 |
Map | rs199922945 |
PheGenI | rs199922945 |
Biobank | rs199922945 |
1000 genomes | rs199922945 |
hgdp | rs199922945 |
ensembl | rs199922945 |
geneview | rs199922945 |
scholar | rs199922945 |
rs199922945 | |
pharmgkb | rs199922945 |
gwascentral | rs199922945 |
openSNP | rs199922945 |
23andMe | rs199922945 |
SNPshot | rs199922945 |
SNPdbe | rs199922945 |
MSV3d | rs199922945 |
GWAS Ctlg | rs199922945 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs199922945(T;T) |
Alt | rs199922945(T;T) |
Reference | Rs199922945(G;G) |
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.100345603G>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000001159.3, RCV000169137.1, |