rs370950728
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs370950728(A;A) |
Make rs370950728(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 17 |
Position | 80105857 |
Gene | GAA |
is a | snp |
is | mentioned by |
dbSNP | rs370950728 |
dbSNP (classic) | rs370950728 |
ClinGen | rs370950728 |
ebi | rs370950728 |
HLI | rs370950728 |
Exac | rs370950728 |
Gnomad | rs370950728 |
Varsome | rs370950728 |
LitVar | rs370950728 |
Map | rs370950728 |
PheGenI | rs370950728 |
Biobank | rs370950728 |
1000 genomes | rs370950728 |
hgdp | rs370950728 |
ensembl | rs370950728 |
geneview | rs370950728 |
scholar | rs370950728 |
rs370950728 | |
pharmgkb | rs370950728 |
gwascentral | rs370950728 |
openSNP | rs370950728 |
23andMe | rs370950728 |
SNPshot | rs370950728 |
SNPdbe | rs370950728 |
MSV3d | rs370950728 |
GWAS Ctlg | rs370950728 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs370950728(A;A) |
Alt | rs370950728(A;A) |
Reference | Rs370950728(G;G) |
Significance | Other |
Disease | Glycogen storage disease not provided |
Variation | info |
Gene | GAA |
CLNDBN | Glycogen storage disease, type II not provided |
Reversed | 0 |
HGVS | NC_000017.10:g.78079656G>A |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000169462.2, RCV000481943.1, |