DCX, doublecortin, 1641

N. diseases: 175; N. variants: 107
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: rs104894779
rs104894779 		0.925 0.120 X 111410215 missense variant C/T snv
CUI: C1848070
Disease: Lissencephaly and agenesis of corpus callosum
Lissencephaly and agenesis of corpus callosum 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs104894780
rs104894780 		0.882 0.120 X 111401121 missense variant G/A snv
CUI: C1848070
Disease: Lissencephaly and agenesis of corpus callosum
Lissencephaly and agenesis of corpus callosum 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs104894780
rs104894780 		0.882 0.120 X 111401121 missense variant G/A snv
CUI: C1837249
Disease: Malformations of Cortical Development, Group II
Malformations of Cortical Development, Group II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs104894781
rs104894781 		0.925 0.120 X 111401322 missense variant A/G snv
CUI: C1848070
Disease: Lissencephaly and agenesis of corpus callosum
Lissencephaly and agenesis of corpus callosum 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs104894782
rs104894782 		0.882 0.120 X 111401087 missense variant G/C;T snv
CUI: C1848070
Disease: Lissencephaly and agenesis of corpus callosum
Lissencephaly and agenesis of corpus callosum 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs104894782
rs104894782 		0.882 0.120 X 111401087 missense variant G/C;T snv
CUI: C1837249
Disease: Malformations of Cortical Development, Group II
Malformations of Cortical Development, Group II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs104894783
rs104894783 		0.925 0.120 X 111410260 missense variant T/G snv
CUI: C1848070
Disease: Lissencephaly and agenesis of corpus callosum
Lissencephaly and agenesis of corpus callosum 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs104894784
rs104894784 		0.925 0.080 X 111410166 missense variant C/A;T snv
CUI: C1837249
Disease: Malformations of Cortical Development, Group II
Malformations of Cortical Development, Group II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs104894785
rs104894785 		0.925 0.080 X 111410134 stop gained G/A;C snv
CUI: C1837249
Disease: Malformations of Cortical Development, Group II
Malformations of Cortical Development, Group II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs104894786
rs104894786 		0.925 0.120 X 111410188 missense variant C/A snv
CUI: C1848070
Disease: Lissencephaly and agenesis of corpus callosum
Lissencephaly and agenesis of corpus callosum 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs122457137
rs122457137 		0.882 0.120 X 111410223 missense variant C/A;T snv
CUI: C1848070
Disease: Lissencephaly and agenesis of corpus callosum
Lissencephaly and agenesis of corpus callosum 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs122457137
rs122457137 		0.882 0.120 X 111410223 missense variant C/A;T snv
CUI: C1837249
Disease: Malformations of Cortical Development, Group II
Malformations of Cortical Development, Group II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1324159050
rs1324159050 		1.000 0.080 X 111333153 missense variant C/T snv 9.5E-06
CUI: C4551968
Disease: Lissencephaly, X-Linked, 1
Lissencephaly, X-Linked, 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1556401725
rs1556401725 		1.000 0.120 X 111400989 splice donor variant C/- delins
CUI: C1848070
Disease: Lissencephaly and agenesis of corpus callosum
Lissencephaly and agenesis of corpus callosum 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1556401744
rs1556401744 		0.925 0.120 X 111401010 frameshift variant AG/- delins
CUI: C4551968
Disease: Lissencephaly, X-Linked, 1
Lissencephaly, X-Linked, 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1556401744
rs1556401744 		0.925 0.120 X 111401010 frameshift variant AG/- delins
CUI: C1848070
Disease: Lissencephaly and agenesis of corpus callosum
Lissencephaly and agenesis of corpus callosum 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1556401951
rs1556401951 		1.000 0.080 X 111401151 missense variant C/A snv
CUI: C4551968
Disease: Lissencephaly, X-Linked, 1
Lissencephaly, X-Linked, 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1556404991
rs1556404991 		1.000 0.120 X 111410043 frameshift variant AG/- del
CUI: C1848070
Disease: Lissencephaly and agenesis of corpus callosum
Lissencephaly and agenesis of corpus callosum 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1556405057
rs1556405057 		1.000 0.120 X 111410111 missense variant G/T snv
CUI: C0016788
Disease: Fucosidase Deficiency Disease
Fucosidase Deficiency Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1569497266
rs1569497266 		1.000 0.080 X 111401003 frameshift variant AG/- delins
CUI: C4551968
Disease: Lissencephaly, X-Linked, 1
Lissencephaly, X-Linked, 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1569498597
rs1569498597 		1.000 0.080 X 111410363 frameshift variant -/CT delins
CUI: C4551968
Disease: Lissencephaly, X-Linked, 1
Lissencephaly, X-Linked, 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs201870761
rs201870761 		1.000 0.080 X 111410089 missense variant T/A;C snv 5.5E-06
CUI: C1837249
Disease: Malformations of Cortical Development, Group II
Malformations of Cortical Development, Group II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs267606317
rs267606317 		1.000 0.080 X 111410094 missense variant C/T snv
CUI: C1837249
Disease: Malformations of Cortical Development, Group II
Malformations of Cortical Development, Group II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs56030372
rs56030372 		0.882 0.120 X 111401108 missense variant C/A;T snv 9.5E-06
CUI: C1848070
Disease: Lissencephaly and agenesis of corpus callosum
Lissencephaly and agenesis of corpus callosum 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs56030372
rs56030372 		0.882 0.120 X 111401108 missense variant C/A;T snv 9.5E-06
CUI: C1837249
Disease: Malformations of Cortical Development, Group II
Malformations of Cortical Development, Group II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0