RS138673993 COL6A1

Health Risk Chr 21:46003908 snv missense variant
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Associated Conditions
Bethlem myopathy 1A
Bethlem myopathy 1A
Population Frequencies
gnomAD ALL
0%
1kG AFR
0.2%
1kG ALL
0%
1kG AMR
100%
1kG EAS
100%
1kG EUR
100%
1kG SAS
100%
Other Variants in COL6A1
rs121912934 rs886042354 rs797044456 rs121912935 rs121912936 rs398123631 rs1569517717 rs797044457 rs797044458 rs121912937
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