rs767882689
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(TG;TG) | 0 | common in clinvar |
Make rs767882689(-;-) |
Make rs767882689(-;TG) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 17 |
Position | 80105111 |
Gene | GAA |
is a | snp |
is | mentioned by |
dbSNP | rs767882689 |
dbSNP (classic) | rs767882689 |
ClinGen | rs767882689 |
ebi | rs767882689 |
HLI | rs767882689 |
Exac | rs767882689 |
Gnomad | rs767882689 |
Varsome | rs767882689 |
LitVar | rs767882689 |
Map | rs767882689 |
PheGenI | rs767882689 |
Biobank | rs767882689 |
1000 genomes | rs767882689 |
hgdp | rs767882689 |
ensembl | rs767882689 |
geneview | rs767882689 |
scholar | rs767882689 |
rs767882689 | |
pharmgkb | rs767882689 |
gwascentral | rs767882689 |
openSNP | rs767882689 |
23andMe | rs767882689 |
SNPshot | rs767882689 |
SNPdbe | rs767882689 |
MSV3d | rs767882689 |
GWAS Ctlg | rs767882689 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs767882689(-;-) |
Alt | rs767882689(-;-) |
Reference | Rs767882689(TG;TG) |
Significance | Probable-Pathogenic |
Disease | Glycogen storage disease |
Variation | info |
Gene | GAA |
CLNDBN | Glycogen storage disease, type II |
Reversed | 0 |
HGVS | NC_000017.10:g.78078910_78078911delTG |
CLNSRC | |
CLNACC | RCV000169454.1, |