rs104894743, ARX

N. diseases: 7
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.
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
CUI: C3463992
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
30 0.807 0.200 X 25012937 missense variant G/A snv 0.800 1.000 3 2002 2017
Intellectual Disability
CUI: C3714756
Disease: Intellectual Disability
159 0.807 0.200 X 25012937 missense variant G/A snv 0.010 1.000 1 2009 2009
Mental Retardation
CUI: C0025362
Disease: Mental Retardation
98 0.807 0.200 X 25012937 missense variant G/A snv 0.010 1.000 1 2009 2009
Myoclonic Epilepsy
CUI: C0014550
Disease: Myoclonic Epilepsy
9 0.807 0.200 X 25012937 missense variant G/A snv 0.010 1.000 1 2002 2002
Spastic Paraplegia
CUI: C0037772
Disease: Spastic Paraplegia
93 0.807 0.200 X 25012937 missense variant G/A snv 0.010 1.000 1 2002 2002
West Syndrome
CUI: C0037769
Disease: West Syndrome
28 0.807 0.200 X 25012937 missense variant G/A snv 0.010 1.000 1 2002 2002
X-Linked Lissencephaly
CUI: C1848199
Disease: X-Linked Lissencephaly
1 0.807 0.200 X 25012937 missense variant G/A snv 0.010 1.000 1 2009 2009