RS138948335 COL6A2

Health Risk Chr 21:46125816 snv stop gained

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Associated Conditions

Bethlem myopathy 1A

Inborn genetic diseases

Bethlem myopathy 1A

Inborn genetic diseases

Population Frequencies

gnomAD ALL

100%

1kG AFR

100%

1kG ALL

100%

1kG AMR

100%

1kG EAS

99.9%

1kG EUR

100%

1kG SAS

0.1%

Other Variants in COL6A2