DCC, DCC netrin 1 receptor, 1630

N. diseases: 279; N. variants: 101
Disease: Agenesis of corpus callosum ×
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: rs1555682265
rs1555682265 		0.851 0.160 18 52923796 frameshift variant TTTCTGG/- delins
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1057519053
rs1057519053 		1.000 0.120 18 52925310 frameshift variant A/- del
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1057519054
rs1057519054 		1.000 0.120 18 53386061 missense variant T/G snv
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1057519055
rs1057519055 		1.000 0.120 18 53386097 missense variant G/A snv
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1057519056
rs1057519056 		1.000 0.120 18 53207746 missense variant G/A;C snv
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1057519057
rs1057519057 		1.000 0.120 18 53391876 missense variant G/A snv
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs199651452
rs199651452 		1.000 0.120 18 53339775 missense variant A/T snv 4.0E-06
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs754914260
rs754914260 		0.925 0.120 18 52923832 stop gained C/A;T snv 4.0E-06
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs775565634
rs775565634 		1.000 0.120 18 53339808 missense variant G/A snv 1.5E-04 7.7E-05
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0