SRD5A3, steroid 5 alpha-reductase 3, 79644

N. diseases: 99; N. variants: 10
Disease: Hypoplasia of the optic nerve ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs398124401
rs398124401 		0.695 0.480 4 55346393 stop gained G/A snv 1.2E-04 2.8E-05
CUI: C0338502
Disease: Hypoplasia of the optic nerve
Hypoplasia of the optic nerve 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0