RS41313301 FKTN

Health Risk Chr 9:105635213 snv missense variant

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Associated Conditions

Cardiomyopathy

Walker-Warburg congenital muscular dystrophy

Cardiovascular phenotype

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)

type A

Dilated cardiomyopathy 1X

Cardiomyopathy

Walker-Warburg congenital muscular dystrophy

Cardiovascular phenotype

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)

type A

Dilated cardiomyopathy 1X

Population Frequencies

gnomAD ALL

1.1%

1kG AFR

0.2%

1kG ALL

99.5%

1kG AMR

0.4%

1kG EAS

100%

1kG EUR

99.2%

1kG SAS

98.7%

Other Variants in FKTN