rs1126690
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs1126690(A;A) |
Make rs1126690(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 80117606 |
Gene | GAA |
is a | snp |
is | mentioned by |
dbSNP | rs1126690 |
dbSNP (classic) | rs1126690 |
ClinGen | rs1126690 |
ebi | rs1126690 |
HLI | rs1126690 |
Exac | rs1126690 |
Gnomad | rs1126690 |
Varsome | rs1126690 |
LitVar | rs1126690 |
Map | rs1126690 |
PheGenI | rs1126690 |
Biobank | rs1126690 |
1000 genomes | rs1126690 |
hgdp | rs1126690 |
ensembl | rs1126690 |
geneview | rs1126690 |
scholar | rs1126690 |
rs1126690 | |
pharmgkb | rs1126690 |
gwascentral | rs1126690 |
openSNP | rs1126690 |
23andMe | rs1126690 |
SNPshot | rs1126690 |
SNPdbe | rs1126690 |
MSV3d | rs1126690 |
GWAS Ctlg | rs1126690 |
GMAF | 0.3049 |
Max Magnitude | 0 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs1126690(A;A) rs1126690(T;T) |
Alt | rs1126690(A;A) rs1126690(T;T) |
Reference | Rs1126690(G;G) |
Significance | Non-pathogenic |
Disease | not specified Glycogen storage disease |
Variation | info |
Gene | GAA |
CLNDBN | not specified Glycogen storage disease, type II |
Reversed | 0 |
HGVS | NC_000017.10:g.78091405G>A |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000078171.6, RCV000336875.1, |