RS121907943 GAA

Health Risk Chr 17:80118270 snv stop gained
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What This Variant Does
"[OMIM:?]
Associated Conditions
Glycogen storage disease
type II
GAA-related disorder
Cardiovascular phenotype
Glycogen storage disease due to acid maltase deficiency
late-onset
Glycogen storage disease
type II
GAA-related disorder
Cardiovascular phenotype
Glycogen storage disease due to acid maltase deficiency
late-onset
Population Frequencies
gnomAD ALL
0%
1kG AFR
0.4%
1kG ALL
0.1%
1kG AMR
100%
1kG EAS
100%
1kG EUR
100%
1kG SAS
100%
Other Variants in GAA
rs121907936 rs121907937 rs28937909 rs121907938 rs121907940 rs121907941 rs386834236 rs121907939 rs28940868 rs1555603048
Ask Dr. Hemsworth about this variant