RS138076523 TTN

Health Risk Chr 2:178720063 snv missense variant
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Associated Conditions
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy
myofibrillar
9
with early respiratory failure
Dilated cardiomyopathy 1G
Tibial muscular dystrophy
Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Myopathy
myofibrillar
9
with early respiratory failure
Dilated cardiomyopathy 1G
Population Frequencies
gnomAD ALL
100%
1kG AFR
100%
1kG ALL
100%
1kG AMR
100%
1kG EAS
99.8%
1kG EUR
100%
1kG SAS
100%
Other Variants in TTN
rs28933405 rs2154172276 rs267607155 rs281864927 rs267607156 rs281864928 rs267607158 rs147879266 rs138060032 rs587776772
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