RS116608946 COL6A3

Health Risk Chr 2:237350157 snv missense variant
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What This Variant Does
"CLNSIG=3
Associated Conditions
Collagen 6-related myopathy
Bethlem myopathy 1A
Collagen 6-related myopathy
Bethlem myopathy 1A
Population Frequencies
gnomAD ALL
0%
1kG AFR
0.1%
1kG ALL
100%
1kG AMR
100%
1kG EAS
100%
1kG EUR
100%
1kG SAS
100%
Other Variants in COL6A3
rs121434553 rs749037028 rs121434554 rs2469867055 rs121434555 rs397515332 rs114511558 rs398124119 rs201962257 rs375909800
Ask Dr. Hemsworth about this variant