rs200856561
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs200856561(C;T) |
Make rs200856561(T;T) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 17 |
Position | 80107616 |
Gene | GAA |
is a | snp |
is | mentioned by |
dbSNP | rs200856561 |
dbSNP (classic) | rs200856561 |
ClinGen | rs200856561 |
ebi | rs200856561 |
HLI | rs200856561 |
Exac | rs200856561 |
Gnomad | rs200856561 |
Varsome | rs200856561 |
LitVar | rs200856561 |
Map | rs200856561 |
PheGenI | rs200856561 |
Biobank | rs200856561 |
1000 genomes | rs200856561 |
hgdp | rs200856561 |
ensembl | rs200856561 |
geneview | rs200856561 |
scholar | rs200856561 |
rs200856561 | |
pharmgkb | rs200856561 |
gwascentral | rs200856561 |
openSNP | rs200856561 |
23andMe | rs200856561 |
SNPshot | rs200856561 |
SNPdbe | rs200856561 |
MSV3d | rs200856561 |
GWAS Ctlg | rs200856561 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs200856561(T;T) |
Alt | rs200856561(T;T) |
Reference | Rs200856561(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.78081415C>T |
CLNSRC | Illumina |
CLNACC | RCV000372885.1, |