RS139552940 COL6A2

Health Risk Chr 21:46131980 snv missense variant
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What This Variant Does
"CLNSIG=5
Associated Conditions
Myopathy
Bethlem myopathy 1A
Ullrich congenital muscular dystrophy 1A
Bethlem myopathy 1B
Myopathy
Bethlem myopathy 1A
Ullrich congenital muscular dystrophy 1A
Bethlem myopathy 1B
Population Frequencies
gnomAD ALL
100%
Other Variants in COL6A2
rs121912940 rs1601231322 rs748035948 rs267606750 rs2517006899 rs1568931397 rs1555873356 rs117725825 rs121912942 rs267606747
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