MAGEL2, MAGE family member L2, 54551

N. diseases: 184; N. variants: 15
Disease: Prader-Willi Syndrome ×
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: rs797044883
rs797044883 		0.882 0.160 15 23645831 stop gained G/A snv
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0