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: rs1557314191
rs1557314191 		1.000 0.080 X 155260886 stop gained C/A snv
CUI: C1846038
Disease: MENTAL RETARDATION, X-LINKED 72
MENTAL RETARDATION, X-LINKED 72 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs267606995
rs267606995 		1.000 0.080 X 155264268 stop gained G/T snv
CUI: C1846038
Disease: MENTAL RETARDATION, X-LINKED 72
MENTAL RETARDATION, X-LINKED 72 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs587776734
rs587776734 		1.000 0.080 X 155264073 splice donor variant C/T snv
CUI: C1846038
Disease: MENTAL RETARDATION, X-LINKED 72
MENTAL RETARDATION, X-LINKED 72 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs587777874
rs587777874 		1.000 0.200 X 155260942 missense variant G/T snv
CUI: C0796195
Disease: Waisman syndrome
Waisman syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.800 1.000 3 2014 2015
dbSNP: rs864309527
rs864309527 		0.925 0.200 X 155260871 missense variant C/T snv
CUI: C0796195
Disease: Waisman syndrome
Waisman syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.800 1.000 3 2014 2015
dbSNP: rs864309527
rs864309527 		0.925 0.200 X 155260871 missense variant C/T snv
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.010 1.000 1 2015 2015