RS115407852 DYSF
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What This Variant Does
"CLNSIG=4
Associated Conditions
Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Primary dilated cardiomyopathy
DYSF-related disorder
Autosomal recessive limb-girdle muscular dystrophy type 2B
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
Miyoshi muscular dystrophy 1
Primary dilated cardiomyopathy
DYSF-related disorder
Population Frequencies
gnomAD ALL
0%
1kG AFR
0.1%
1kG ALL
99.9%
1kG AMR
100%
1kG EAS
100%
1kG EUR
0.3%
1kG SAS
100%
Other Variants in DYSF