RS115144373 ESCO2

Health Risk Chr 8:27803366 snv missense variant

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Associated Conditions

Hereditary breast ovarian cancer syndrome

Roberts-SC phocomelia syndrome

Hereditary breast ovarian cancer syndrome

Roberts-SC phocomelia syndrome

Population Frequencies

gnomAD ALL

100%

1kG AFR

98%

1kG ALL

0.5%

1kG AMR

100%

1kG EAS

100%

1kG EUR

100%

1kG SAS

100%

Other Variants in ESCO2