RS116193143 DYNC2I1

Health Risk Chr 7:158911553 snv stop gained

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Associated Conditions

Short-rib thoracic dysplasia 8 with or without polydactyly

Inborn genetic diseases

Short-rib thoracic dysplasia 8 with or without polydactyly

Inborn genetic diseases

Population Frequencies

gnomAD ALL

100%

1kG AFR

1.5%

1kG ALL

0.4%

1kG AMR

100%

1kG EAS

100%

1kG EUR

0.1%

1kG SAS

100%

Other Variants in DYNC2I1