RS6700677 P3H1

Health Risk Chr 1:42757817 snv missense variant

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Associated Conditions

Osteogenesis imperfecta type 8

Osteogenesis Imperfecta

Recessive

Osteogenesis imperfecta type 8

Osteogenesis Imperfecta

Recessive

Population Frequencies

gnomAD ALL

4.3%

1kG AFR

11.2%

1kG ALL

94.5%

1kG AMR

96.1%

1kG EAS

0.1%

1kG EUR

3.9%

1kG SAS

93.9%

Other Variants in P3H1