rs121907943
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 3 | Carrier of a glycogen storage disease II mutation |
(T;T) | 5 | Glycogen storage disease II (predicted) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 80118271 |
Gene | GAA |
is a | snp |
is | mentioned by |
dbSNP | rs121907943 |
dbSNP (classic) | rs121907943 |
ClinGen | rs121907943 |
ebi | rs121907943 |
HLI | rs121907943 |
Exac | rs121907943 |
Gnomad | rs121907943 |
Varsome | rs121907943 |
LitVar | rs121907943 |
Map | rs121907943 |
PheGenI | rs121907943 |
Biobank | rs121907943 |
1000 genomes | rs121907943 |
hgdp | rs121907943 |
ensembl | rs121907943 |
geneview | rs121907943 |
scholar | rs121907943 |
rs121907943 | |
pharmgkb | rs121907943 |
gwascentral | rs121907943 |
openSNP | rs121907943 |
23andMe | rs121907943 |
SNPshot | rs121907943 |
SNPdbe | rs121907943 |
MSV3d | rs121907943 |
GWAS Ctlg | rs121907943 |
GMAF | 0.0004591 |
Max Magnitude | 5 |
aka c.2560C>T (p.Arg854Ter or R854X)
Historically, this mutation is considered most prevalent among African Americans.[PMID 8094613]
ClinVar | |
---|---|
Risk | Rs121907943(T;T) |
Alt | Rs121907943(T;T) |
Reference | Rs121907943(C;C) |
Significance | Pathogenic |
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.78092070C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000004249.5, RCV000255539.1, |