RS116135678 PYGM

Health Risk Chr 11:64754023 snv missense variant

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What This Variant Does

"CLNSIG=255

Associated Conditions

Glycogen storage disease

type V

Tip-toe gait

Glycogen storage disease

type V

Tip-toe gait

Population Frequencies

gnomAD ALL

0.1%

1kG AFR

100%

1kG ALL

99.9%

1kG AMR

100%

1kG EAS

0.1%

1kG EUR

99.6%

1kG SAS

100%

Other Variants in PYGM