RS111517514 NEB

Health Risk Chr 2:151547733 snv missense variant

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Associated Conditions

Nemaline myopathy 2

Arthrogryposis multiplex congenita 6

Nemaline myopathy 2

Arthrogryposis multiplex congenita 6

Population Frequencies

gnomAD ALL

0.1%

1kG AFR

100%

1kG ALL

100%

1kG AMR

100%

1kG EAS

100%

1kG EUR

0.1%

1kG SAS

100%

Other Variants in NEB