rs747610090
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs747610090(A;A) |
Make rs747610090(A;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 17 |
Position | 80108818 |
Gene | GAA |
is a | snp |
is | mentioned by |
dbSNP | rs747610090 |
dbSNP (classic) | rs747610090 |
ClinGen | rs747610090 |
ebi | rs747610090 |
HLI | rs747610090 |
Exac | rs747610090 |
Gnomad | rs747610090 |
Varsome | rs747610090 |
LitVar | rs747610090 |
Map | rs747610090 |
PheGenI | rs747610090 |
Biobank | rs747610090 |
1000 genomes | rs747610090 |
hgdp | rs747610090 |
ensembl | rs747610090 |
geneview | rs747610090 |
scholar | rs747610090 |
rs747610090 | |
pharmgkb | rs747610090 |
gwascentral | rs747610090 |
openSNP | rs747610090 |
23andMe | rs747610090 |
SNPshot | rs747610090 |
SNPdbe | rs747610090 |
MSV3d | rs747610090 |
GWAS Ctlg | rs747610090 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs747610090(A;A) |
Alt | rs747610090(A;A) |
Reference | Rs747610090(T;T) |
Significance | Probable-Pathogenic |
Disease | Glycogen storage disease |
Variation | info |
Gene | GAA |
CLNDBN | Glycogen storage disease, type II |
Reversed | 0 |
HGVS | NC_000017.10:g.78082617T>A |
CLNSRC | |
CLNACC | RCV000410956.1, |