RS11540674 POR

Health Risk Chr 7:75983586 snv missense variant
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Associated Conditions
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
Population Frequencies
gnomAD ALL
0%
1kG AFR
100%
1kG ALL
100%
1kG AMR
100%
1kG EAS
100%
1kG EUR
0.1%
1kG SAS
100%
Other Variants in POR
rs28931606 rs121912974 rs28931607 rs72552772 rs786205099 rs72552771 rs28931608 rs786205875 rs121912975 rs786205876
Ask Dr. Hemsworth about this variant