SRD5A3, steroid 5 alpha-reductase 3, 79644

N. diseases: 99; N. variants: 10
Disease: Severe muscular hypotonia ×
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: rs267607093
rs267607093 		0.851 0.160 4 55359444 stop gained G/A snv 4.0E-06
CUI: C1839630
Disease: Severe muscular hypotonia
Severe muscular hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0