rs780321415
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs780321415(C;T) |
Make rs780321415(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 17 |
Position | 80118319 |
Gene | GAA |
is a | snp |
is | mentioned by |
dbSNP | rs780321415 |
dbSNP (classic) | rs780321415 |
ClinGen | rs780321415 |
ebi | rs780321415 |
HLI | rs780321415 |
Exac | rs780321415 |
Gnomad | rs780321415 |
Varsome | rs780321415 |
LitVar | rs780321415 |
Map | rs780321415 |
PheGenI | rs780321415 |
Biobank | rs780321415 |
1000 genomes | rs780321415 |
hgdp | rs780321415 |
ensembl | rs780321415 |
geneview | rs780321415 |
scholar | rs780321415 |
rs780321415 | |
pharmgkb | rs780321415 |
gwascentral | rs780321415 |
openSNP | rs780321415 |
23andMe | rs780321415 |
SNPshot | rs780321415 |
SNPdbe | rs780321415 |
MSV3d | rs780321415 |
GWAS Ctlg | rs780321415 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs780321415(T;T) |
Alt | rs780321415(T;T) |
Reference | Rs780321415(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.78092118C>T |
CLNSRC | |
CLNACC | RCV000169394.1, |