RS113993979 PYGL

Health Risk Chr 14:50915372 snv missense variant
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What This Variant Does
"CLNSIG=5
Associated Conditions
Glycogen storage disease
type VI
Glycogen storage disease
type VI
Population Frequencies
gnomAD ALL
100%
1kG AFR
100%
1kG ALL
100%
1kG AMR
100%
1kG EAS
0.1%
1kG EUR
100%
1kG SAS
100%
Other Variants in PYGL
rs113993982 rs113993974 rs113993977 rs113993981 rs113993978 rs113993980 rs35026927 rs113993986 rs113993973 rs113993975
Ask Dr. Hemsworth about this variant