MAGEL2, MAGE family member L2, 54551

N. diseases: 184; N. variants: 15
Disease: Multiple congenital anomalies ×
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: rs1555374117
rs1555374117 		1.000 15 23644621 frameshift variant A/- del
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 10 1993 2015
dbSNP: rs797044883
rs797044883 		0.882 0.160 15 23645831 stop gained G/A snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 10 1993 2015