RS114621989 DNAH7

Health Risk Chr 2:195738048 snv missense variant

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Associated Conditions

Abdominal situs inversus

Primary ciliary dyskinesia

Male infertility with azoospermia or oligozoospermia due to single gene mutation

Abdominal situs inversus

Primary ciliary dyskinesia

Male infertility with azoospermia or oligozoospermia due to single gene mutation

Population Frequencies

gnomAD ALL

99.1%

1kG AFR

99.9%

1kG ALL

0.4%

1kG AMR

99.4%

1kG EAS

100%

1kG EUR

1.1%

1kG SAS

0.6%

Other Variants in DNAH7