rs1114167295, MAGED2

N. diseases: 6
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Attention deficit hyperactivity disorder
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
420 0.827 0.160 X 54812169 frameshift variant C/- del 0.700 0
Cerebellar atrophy
CUI: C0740279
Disease: Cerebellar atrophy
67 0.827 0.160 X 54812169 frameshift variant C/- del 0.700 0
Dandy-Walker Syndrome
CUI: C0010964
Disease: Dandy-Walker Syndrome
9 0.827 0.160 X 54812169 frameshift variant C/- del 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.827 0.160 X 54812169 frameshift variant C/- del 0.700 0
Hypoplasia of corpus callosum
CUI: C0344482
Disease: Hypoplasia of corpus callosum
49 0.827 0.160 X 54812169 frameshift variant C/- del 0.700 0
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.827 0.160 X 54812169 frameshift variant C/- del 0.700 0