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rs786205876

From SNPedia

ClinVar
Risk rs786205876(;)
Alt rs786205876(;)
Reference rs786205876(TAAAGCAAGACCGAGAGCACCTGT;TAAAGCAAGACCGAGAGCACCTGT)
Significance Pathogenic
Disease Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
Variation info
Gene POR
CLNDBN Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
Reversed 0
HGVS NC_000007.13:g.75615496_75615519del24
CLNSRC OMIM Allelic Variant
CLNACC RCV000018412.24,