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: rs1057519331
rs1057519331 		1.000 0.080 X 40589122 splice region variant T/A snv
CUI: C1845543
Disease: Mental Retardation, X-Linked, with Epilepsy
Mental Retardation, X-Linked, with Epilepsy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs121918521
rs121918521 		0.925 0.080 X 40597269 missense variant C/T snv
CUI: C1845543
Disease: Mental Retardation, X-Linked, with Epilepsy
Mental Retardation, X-Linked, with Epilepsy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs397518480
rs397518480 		1.000 X 40597293 missense variant C/T snv
CUI: C3806722
Disease: PARKINSONISM WITH SPASTICITY, X-LINKED
PARKINSONISM WITH SPASTICITY, X-LINKED 		0.700 0
dbSNP: rs121918521
rs121918521 		0.925 0.080 X 40597269 missense variant C/T snv
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs2968915
rs2968915 		1.000 0.040 X 40580182 intron variant G/A snv
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 2011 2011
dbSNP: rs2968915
rs2968915 		1.000 0.040 X 40580182 intron variant G/A snv
CUI: C0007820
Disease: Cerebrovascular Disorders
Cerebrovascular Disorders 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2011 2011
dbSNP: rs2968915
rs2968915 		1.000 0.040 X 40580182 intron variant G/A snv
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2011 2011