SYP, synaptophysin, 6855

N. diseases: 243; N. variants: 3
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: rs137852561
rs137852561 		1.000 X 49191730 missense variant C/G;T snv
CUI: C3275408
Disease: MENTAL RETARDATION, X-LINKED 96
MENTAL RETARDATION, X-LINKED 96 		0.800 1.000 1 2009 2009
dbSNP: rs139475570
rs139475570 		1.000 X 49191502 missense variant C/T snv 1.3E-03 1.2E-03
CUI: C3275408
Disease: MENTAL RETARDATION, X-LINKED 96
MENTAL RETARDATION, X-LINKED 96 		0.700 1.000 1 2009 2009
dbSNP: rs199590018
rs199590018 		0.925 0.120 X 49193294 missense variant G/A snv 1.4E-04 7.5E-05
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.010 1.000 1 2017 2017
dbSNP: rs199590018
rs199590018 		0.925 0.120 X 49193294 missense variant G/A snv 1.4E-04 7.5E-05
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs199590018
rs199590018 		0.925 0.120 X 49193294 missense variant G/A snv 1.4E-04 7.5E-05
CUI: C0014544
Disease: Epilepsy
Epilepsy 		Nervous System Diseases 0.010 1.000 1 2017 2017