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
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
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: rs104894781
rs104894781
0.925 0.120 X 111401322 missense variant A/G snv
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
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: rs104894783
rs104894783
0.925 0.120 X 111410260 missense variant T/G snv
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: rs104894786
rs104894786
0.925 0.120 X 111410188 missense variant C/A snv
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
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: rs1556401725
rs1556401725
1.000 0.120 X 111400989 splice donor variant C/- delins
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
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: rs1556404991
rs1556404991
1.000 0.120 X 111410043 frameshift variant AG/- del
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
Lissencephaly and agenesis of corpus callosum
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0