rs577915581
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs577915581(C;T) |
Make rs577915581(T;T) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 17 |
Position | 80107625 |
Gene | GAA |
is a | snp |
is | mentioned by |
dbSNP | rs577915581 |
dbSNP (classic) | rs577915581 |
ClinGen | rs577915581 |
ebi | rs577915581 |
HLI | rs577915581 |
Exac | rs577915581 |
Gnomad | rs577915581 |
Varsome | rs577915581 |
LitVar | rs577915581 |
Map | rs577915581 |
PheGenI | rs577915581 |
Biobank | rs577915581 |
1000 genomes | rs577915581 |
hgdp | rs577915581 |
ensembl | rs577915581 |
geneview | rs577915581 |
scholar | rs577915581 |
rs577915581 | |
pharmgkb | rs577915581 |
gwascentral | rs577915581 |
openSNP | rs577915581 |
23andMe | rs577915581 |
SNPshot | rs577915581 |
SNPdbe | rs577915581 |
MSV3d | rs577915581 |
GWAS Ctlg | rs577915581 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs577915581(T;T) |
Alt | rs577915581(T;T) |
Reference | Rs577915581(C;C) |
Significance | Probable-Pathogenic |
Disease | Glycogen storage disease |
Variation | info |
Gene | GAA |
CLNDBN | Glycogen storage disease, type II |
Reversed | 0 |
HGVS | NC_000017.10:g.78081424C>T |
CLNSRC | Illumina |
CLNACC | RCV000285433.1, |