rs1800309
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs1800309(A;A) |
Make rs1800309(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 80113242 |
Gene | GAA |
is a | snp |
is | mentioned by |
dbSNP | rs1800309 |
dbSNP (classic) | rs1800309 |
ClinGen | rs1800309 |
ebi | rs1800309 |
HLI | rs1800309 |
Exac | rs1800309 |
Gnomad | rs1800309 |
Varsome | rs1800309 |
LitVar | rs1800309 |
Map | rs1800309 |
PheGenI | rs1800309 |
Biobank | rs1800309 |
1000 genomes | rs1800309 |
hgdp | rs1800309 |
ensembl | rs1800309 |
geneview | rs1800309 |
scholar | rs1800309 |
rs1800309 | |
pharmgkb | rs1800309 |
gwascentral | rs1800309 |
openSNP | rs1800309 |
23andMe | rs1800309 |
SNPshot | rs1800309 |
SNPdbe | rs1800309 |
MSV3d | rs1800309 |
GWAS Ctlg | rs1800309 |
GMAF | 0.09045 |
Max Magnitude | 0 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs1800309(A;A) |
Alt | rs1800309(A;A) |
Reference | Rs1800309(G;G) |
Significance | Other |
Disease | Acid alpha-glucosidase not specified Glycogen storage disease |
Variation | info |
Gene | GAA |
CLNDBN | Acid alpha-glucosidase, allele 4 not specified Glycogen storage disease, type II |
Reversed | 0 |
HGVS | NC_000017.10:g.78087041G>A |
CLNSRC | HGMD OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000004245.1, RCV000078165.9, RCV000383641.1, |