MAGEL2, MAGE family member L2, 54551

N. diseases: 184; N. variants: 15
Disease: Global developmental delay ×
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: rs770374710
rs770374710 		0.611 0.560 15 23645747 frameshift variant G/-;GG delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0