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: C4551968
Disease: Lissencephaly, X-Linked, 1
Lissencephaly, X-Linked, 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 15 1998 2016
dbSNP: rs104894780
rs104894780
0.882 0.120 X 111401121 missense variant G/A snv
CUI: C4551968
Disease: Lissencephaly, X-Linked, 1
Lissencephaly, X-Linked, 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 15 1998 2016
dbSNP: rs104894781
rs104894781
0.925 0.120 X 111401322 missense variant A/G snv
CUI: C4551968
Disease: Lissencephaly, X-Linked, 1
Lissencephaly, X-Linked, 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 15 1998 2016
dbSNP: rs104894782
rs104894782
0.882 0.120 X 111401087 missense variant G/C;T snv
CUI: C4551968
Disease: Lissencephaly, X-Linked, 1
Lissencephaly, X-Linked, 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 15 1998 2016
dbSNP: rs104894783
rs104894783
0.925 0.120 X 111410260 missense variant T/G snv
CUI: C4551968
Disease: Lissencephaly, X-Linked, 1
Lissencephaly, X-Linked, 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 15 1998 2016
dbSNP: rs122457137
rs122457137
0.882 0.120 X 111410223 missense variant C/A;T snv
CUI: C4551968
Disease: Lissencephaly, X-Linked, 1
Lissencephaly, X-Linked, 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 15 1998 2016
dbSNP: rs104894784
rs104894784
0.925 0.080 X 111410166 missense variant C/A;T snv
CUI: C4551968
Disease: Lissencephaly, X-Linked, 1
Lissencephaly, X-Linked, 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 8 1998 2002
dbSNP: rs104894785
rs104894785
0.925 0.080 X 111410134 stop gained G/A;C snv
CUI: C4551968
Disease: Lissencephaly, X-Linked, 1
Lissencephaly, X-Linked, 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 8 1998 2002
dbSNP: rs104894786
rs104894786
0.925 0.120 X 111410188 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 0.800 1.000 7 1998 2016
dbSNP: rs56030372
rs56030372
0.882 0.120 X 111401108 missense variant C/A;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 0.800 1.000 7 1998 2016
dbSNP: rs398124557
rs398124557
1.000 0.080 X 111333074 missense variant T/C snv
CUI: C4551968
Disease: Lissencephaly, X-Linked, 1
Lissencephaly, X-Linked, 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 15 1998 2016
dbSNP: rs587783523
rs587783523
0.925 0.080 X 111410249 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 1.000 8 1998 2002
dbSNP: rs587783537
rs587783537
0.925 0.080 X 111410109 missense variant A/C snv
CUI: C4551968
Disease: Lissencephaly, X-Linked, 1
Lissencephaly, X-Linked, 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 8 1998 2002
dbSNP: rs587783558
rs587783558
0.925 0.080 X 111401163 missense variant G/A;C snv
CUI: C4551968
Disease: Lissencephaly, X-Linked, 1
Lissencephaly, X-Linked, 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 8 1998 2002
dbSNP: rs587783559
rs587783559
0.925 0.080 X 111401162 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 1.000 8 1998 2002
dbSNP: rs587783562
rs587783562
0.882 0.080 X 111401139 missense variant G/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 1.000 8 1998 2002
dbSNP: rs587783566
rs587783566
0.925 0.080 X 111401123 missense variant G/C snv
CUI: C4551968
Disease: Lissencephaly, X-Linked, 1
Lissencephaly, X-Linked, 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 8 1998 2002
dbSNP: rs587783570
rs587783570
0.925 0.080 X 111401088 missense variant T/C snv
CUI: C4551968
Disease: Lissencephaly, X-Linked, 1
Lissencephaly, X-Linked, 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 8 1998 2002
dbSNP: rs587783574
rs587783574
0.925 0.080 X 111401054 missense variant A/G snv
CUI: C4551968
Disease: Lissencephaly, X-Linked, 1
Lissencephaly, X-Linked, 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 8 1998 2002
dbSNP: rs587783585
rs587783585
0.925 0.080 X 111333108 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 1.000 8 1998 2002
dbSNP: rs587783521
rs587783521
0.925 0.080 X 111410271 missense variant A/G snv
CUI: C4551968
Disease: Lissencephaly, X-Linked, 1
Lissencephaly, X-Linked, 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 7 1998 2016
dbSNP: rs1556405129
rs1556405129
0.925 0.080 X 111410209 missense variant A/T snv
CUI: C4551968
Disease: Lissencephaly, X-Linked, 1
Lissencephaly, X-Linked, 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1556405129
rs1556405129
0.925 0.080 X 111410209 missense variant A/T snv
Malformations of Cortical Development, Group II
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2018 2018
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