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: rs587783579
rs587783579
1.000 0.080 X 111401014 frameshift variant T/-;TT delins
CUI: C1856019
Disease: Abnormal cortical gyration
Abnormal cortical gyration
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs797045510
rs797045510
X 111410375 frameshift variant AA/- delins
CUI: C1856019
Disease: Abnormal cortical gyration
Abnormal cortical gyration
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs797045512
rs797045512
X 111410119 missense variant T/C snv
CUI: C1856019
Disease: Abnormal cortical gyration
Abnormal cortical gyration
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs797045513
rs797045513
X 111410083 inframe insertion -/GTA delins
CUI: C1856019
Disease: Abnormal cortical gyration
Abnormal cortical gyration
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs797045514
rs797045514
X 111410059 frameshift variant -/G delins
CUI: C1856019
Disease: Abnormal cortical gyration
Abnormal cortical gyration
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs797045515
rs797045515
X 111401167 frameshift variant A/- delins
CUI: C1856019
Disease: Abnormal cortical gyration
Abnormal cortical gyration
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs797045518
rs797045518
X 111400995 inframe insertion -/TCCATCCAGAGTGTA delins
CUI: C1856019
Disease: Abnormal cortical gyration
Abnormal cortical gyration
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs797045519
rs797045519
X 111410313 frameshift variant -/TAGGC delins
CUI: C1856019
Disease: Abnormal cortical gyration
Abnormal cortical gyration
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs797045520
rs797045520
X 111330974 frameshift variant -/T delins
CUI: C1856019
Disease: Abnormal cortical gyration
Abnormal cortical gyration
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0