DCC, DCC netrin 1 receptor, 1630

N. diseases: 279; N. variants: 101
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: rs1346972
rs1346972 		0.925 0.040 18 52768791 intron variant G/A snv 2.0E-02
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		Musculoskeletal Diseases 0.700 1.000 1 2018 2018
dbSNP: rs16955886
rs16955886 		0.925 0.040 18 52943172 intron variant A/G snv 6.0E-02
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		Musculoskeletal Diseases 0.700 1.000 1 2018 2018
dbSNP: rs2229080
rs2229080 		0.742 0.320 18 52906232 missense variant C/A;G snv 0.45
CUI: C0279550
Disease: Adult Rhabdomyosarcoma
Adult Rhabdomyosarcoma 		Neoplasms 0.010 1.000 1 2000 2000
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
dbSNP: rs2229080
rs2229080 		0.742 0.320 18 52906232 missense variant C/A;G snv 0.45
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		Immune System Diseases 0.010 < 0.001 1 2003 2003
dbSNP: rs4384683
rs4384683 		18 52852662 intron variant G/A snv 0.56
CUI: C0004604
Disease: Back Pain
Back Pain 		Pathological Conditions, Signs and Symptoms 0.700 1.000 1 2018 2018
dbSNP: rs11082953
rs11082953 		18 52865500 intron variant A/T snv 0.29
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs4129322
rs4129322 		18 53079272 intron variant G/A snv 0.16
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2017 2017
dbSNP: rs9956644
rs9956644 		18 52867330 intron variant T/A;C snv
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs1568364038
rs1568364038 		18 53205308 frameshift variant G/- delins
CUI: C1855710
Disease: Bone marrow hypocellularity
Bone marrow hypocellularity 		0.700 0
dbSNP: rs2229080
rs2229080 		0.742 0.320 18 52906232 missense variant C/A;G snv 0.45
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2016 2016
dbSNP: rs4078288
rs4078288 		0.882 0.120 18 53020881 intron variant G/A snv 0.73
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 < 0.001 1 2016 2016
dbSNP: rs7504990
rs7504990 		0.851 0.120 18 52991406 intron variant T/C snv 0.73
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2016 2016
dbSNP: rs2229080
rs2229080 		0.742 0.320 18 52906232 missense variant C/A;G snv 0.45
CUI: C0007097
Disease: Carcinoma
Carcinoma 		Neoplasms 0.010 1.000 1 1997 1997
dbSNP: rs2229080
rs2229080 		0.742 0.320 18 52906232 missense variant C/A;G snv 0.45
CUI: C0220611
Disease: Childhood Rhabdomyosarcoma
Childhood Rhabdomyosarcoma 		Neoplasms 0.010 1.000 1 2000 2000
dbSNP: rs2229080
rs2229080 		0.742 0.320 18 52906232 missense variant C/A;G snv 0.45
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2004 2004
dbSNP: rs9944880
rs9944880 		0.882 0.120 18 53125996 intron variant G/A snv 5.3E-02
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2018 2018