rs387906244
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs387906244(-;A) |
Make rs387906244(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 99921581 |
Gene | AGL |
is a | snp |
is | mentioned by |
dbSNP | rs387906244 |
dbSNP (classic) | rs387906244 |
ClinGen | rs387906244 |
ebi | rs387906244 |
HLI | rs387906244 |
Exac | rs387906244 |
Gnomad | rs387906244 |
Varsome | rs387906244 |
LitVar | rs387906244 |
Map | rs387906244 |
PheGenI | rs387906244 |
Biobank | rs387906244 |
1000 genomes | rs387906244 |
hgdp | rs387906244 |
ensembl | rs387906244 |
geneview | rs387906244 |
scholar | rs387906244 |
rs387906244 | |
pharmgkb | rs387906244 |
gwascentral | rs387906244 |
openSNP | rs387906244 |
23andMe | rs387906244 |
SNPshot | rs387906244 |
SNPdbe | rs387906244 |
MSV3d | rs387906244 |
GWAS Ctlg | rs387906244 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs387906244(A;A) |
Alt | rs387906244(A;A) |
Reference | Rs387906244(-;-) |
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.100387137dupA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000001152.3, RCV000169573.1, |