rs786204727
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(D;D) | 0 | common genotype |
Make rs786204727(-;A) |
Make rs786204727(A;A) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 17 |
Position | 80112649 |
Gene | GAA |
is a | snp |
is | mentioned by |
dbSNP | rs786204727 |
dbSNP (classic) | rs786204727 |
ClinGen | rs786204727 |
ebi | rs786204727 |
HLI | rs786204727 |
Exac | rs786204727 |
Gnomad | rs786204727 |
Varsome | rs786204727 |
LitVar | rs786204727 |
Map | rs786204727 |
PheGenI | rs786204727 |
Biobank | rs786204727 |
1000 genomes | rs786204727 |
hgdp | rs786204727 |
ensembl | rs786204727 |
geneview | rs786204727 |
scholar | rs786204727 |
rs786204727 | |
pharmgkb | rs786204727 |
gwascentral | rs786204727 |
openSNP | rs786204727 |
23andMe | rs786204727 |
SNPshot | rs786204727 |
SNPdbe | rs786204727 |
MSV3d | rs786204727 |
GWAS Ctlg | rs786204727 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786204727(A;A) |
Alt | rs786204727(A;A) |
Reference | Rs786204727(-;-) |
Significance | Probable-Pathogenic |
Disease | Glycogen storage disease |
Variation | info |
Gene | GAA |
CLNDBN | Glycogen storage disease, type II |
Reversed | 0 |
HGVS | NC_000017.10:g.78086448dupA |
CLNSRC | |
CLNACC | RCV000169565.1, |