L1CAM, L1 cell adhesion molecule, 3897

N. diseases: 289; N. variants: 35
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: rs137852521
rs137852521 		0.925 0.080 X 153870933 missense variant C/T snv
CUI: C0265216
Disease: X-linked hydrocephalus syndrome
X-linked hydrocephalus syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.810 1.000 21 1993 2013
dbSNP: rs137852518
rs137852518 		1.000 0.080 X 153870403 missense variant C/T snv
CUI: C0265216
Disease: X-linked hydrocephalus syndrome
X-linked hydrocephalus syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 20 1993 2013
dbSNP: rs137852519
rs137852519 		1.000 0.200 X 153868034 missense variant C/T snv
CUI: C0795953
Disease: MASA SYNDROME (disorder)
MASA SYNDROME (disorder) 		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 20 1994 2017
dbSNP: rs137852520
rs137852520 		0.851 0.200 X 153868866 missense variant C/T snv
CUI: C0265216
Disease: X-linked hydrocephalus syndrome
X-linked hydrocephalus syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 20 1993 2013
dbSNP: rs137852522
rs137852522 		0.925 0.200 X 153862856 missense variant G/A snv
CUI: C0265216
Disease: X-linked hydrocephalus syndrome
X-linked hydrocephalus syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 20 1993 2013
dbSNP: rs137852522
rs137852522 		0.925 0.200 X 153862856 missense variant G/A snv
CUI: C0795953
Disease: MASA SYNDROME (disorder)
MASA SYNDROME (disorder) 		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 20 1994 2017
dbSNP: rs137852523
rs137852523 		0.925 0.200 X 153870948 missense variant A/C snv
CUI: C0795953
Disease: MASA SYNDROME (disorder)
MASA SYNDROME (disorder) 		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 20 1994 2017
dbSNP: rs137852524
rs137852524 		0.882 0.200 X 153869818 missense variant C/T snv
CUI: C0795953
Disease: MASA SYNDROME (disorder)
MASA SYNDROME (disorder) 		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 20 1994 2017
dbSNP: rs137852526
rs137852526 		0.925 0.120 X 153870475 missense variant G/A snv
CUI: C0265216
Disease: X-linked hydrocephalus syndrome
X-linked hydrocephalus syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 20 1993 2013
dbSNP: rs28933683
rs28933683 		0.882 0.200 X 153870854 missense variant G/A;C;T snv 9.3E-05
CUI: C0795953
Disease: MASA SYNDROME (disorder)
MASA SYNDROME (disorder) 		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 20 1994 2017
dbSNP: rs137852526
rs137852526 		0.925 0.120 X 153870475 missense variant G/A snv
CUI: C1839909
Disease: CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED
CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 1 2006 2006
dbSNP: rs797044787
rs797044787 		0.851 0.240 X 153870123 synonymous variant G/A snv
CUI: C0265216
Disease: X-linked hydrocephalus syndrome
X-linked hydrocephalus syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.720 1.000 2 1998 2014
dbSNP: rs137852523
rs137852523 		0.925 0.200 X 153870948 missense variant A/C snv
CUI: C0265216
Disease: X-linked hydrocephalus syndrome
X-linked hydrocephalus syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 20 1993 2013
dbSNP: rs137852524
rs137852524 		0.882 0.200 X 153869818 missense variant C/T snv
CUI: C0265216
Disease: X-linked hydrocephalus syndrome
X-linked hydrocephalus syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 20 1993 2013
dbSNP: rs137852525
rs137852525 		0.882 0.200 X 153866826 missense variant C/T snv 5.5E-06
CUI: C0265216
Disease: X-linked hydrocephalus syndrome
X-linked hydrocephalus syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 20 1993 2013
dbSNP: rs137852525
rs137852525 		0.882 0.200 X 153866826 missense variant C/T snv 5.5E-06
CUI: C0795953
Disease: MASA SYNDROME (disorder)
MASA SYNDROME (disorder) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 20 1994 2017
dbSNP: rs367665974
rs367665974 		1.000 0.200 X 153870122 missense variant C/T snv 5.5E-06
CUI: C0795953
Disease: MASA SYNDROME (disorder)
MASA SYNDROME (disorder) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 20 1994 2017
dbSNP: rs797045674
rs797045674 		1.000 0.080 X 153866729 missense variant T/C snv
CUI: C0265216
Disease: X-linked hydrocephalus syndrome
X-linked hydrocephalus syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 20 1993 2013
dbSNP: rs886039408
rs886039408 		0.925 0.200 X 153868690 missense variant G/A snv
CUI: C0795953
Disease: MASA SYNDROME (disorder)
MASA SYNDROME (disorder) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 20 1994 2017
dbSNP: rs886039408
rs886039408 		0.925 0.200 X 153868690 missense variant G/A snv
CUI: C0265216
Disease: X-linked hydrocephalus syndrome
X-linked hydrocephalus syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 20 1993 2013
dbSNP: rs886039409
rs886039409 		0.925 0.200 X 153867401 missense variant C/T snv
CUI: C0265216
Disease: X-linked hydrocephalus syndrome
X-linked hydrocephalus syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 20 1993 2013
dbSNP: rs886039409
rs886039409 		0.925 0.200 X 153867401 missense variant C/T snv
CUI: C0795953
Disease: MASA SYNDROME (disorder)
MASA SYNDROME (disorder) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 20 1994 2017
dbSNP: rs137852520
rs137852520 		0.851 0.200 X 153868866 missense variant C/T snv
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 3 1994 2002
dbSNP: rs863224494
rs863224494 		1.000 0.080 X 153867800 stop gained T/A snv
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 2 2000 2001
dbSNP: rs137852524
rs137852524 		0.882 0.200 X 153869818 missense variant C/T snv
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2002 2002