rs121907945
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 3 | Carrier of a glycogen storage disease II mutation |
(G;G) | 0 | common in clinvar |
Make rs121907945(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 80107818 |
Gene | GAA |
is a | snp |
is | mentioned by |
dbSNP | rs121907945 |
dbSNP (classic) | rs121907945 |
ClinGen | rs121907945 |
ebi | rs121907945 |
HLI | rs121907945 |
Exac | rs121907945 |
Gnomad | rs121907945 |
Varsome | rs121907945 |
LitVar | rs121907945 |
Map | rs121907945 |
PheGenI | rs121907945 |
Biobank | rs121907945 |
1000 genomes | rs121907945 |
hgdp | rs121907945 |
ensembl | rs121907945 |
geneview | rs121907945 |
scholar | rs121907945 |
rs121907945 | |
pharmgkb | rs121907945 |
gwascentral | rs121907945 |
openSNP | rs121907945 |
23andMe | rs121907945 |
SNPshot | rs121907945 |
SNPdbe | rs121907945 |
MSV3d | rs121907945 |
GWAS Ctlg | rs121907945 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs121907945(A;A) |
Alt | rs121907945(A;A) |
Reference | Rs121907945(G;G) |
Significance | Pathogenic |
Disease | Glycogen storage disease II |
Variation | info |
Gene | GAA |
CLNDBN | Glycogen storage disease II, adult form |
Reversed | 0 |
HGVS | NC_000017.10:g.78081617G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000004251.2, |