NOTCH3, notch receptor 3, 4854

N. diseases: 418; N. variants: 71
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: rs1043994
rs1043994 		0.827 0.120 19 15192033 synonymous variant T/A;C snv 4.0E-06; 0.85
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders 		Nervous System Diseases 0.020 1.000 2 2006 2015
dbSNP: rs1043994
rs1043994 		0.827 0.120 19 15192033 synonymous variant T/A;C snv 4.0E-06; 0.85
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1043994
rs1043994 		0.827 0.120 19 15192033 synonymous variant T/A;C snv 4.0E-06; 0.85
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1043994
rs1043994 		0.827 0.120 19 15192033 synonymous variant T/A;C snv 4.0E-06; 0.85
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1043994
rs1043994 		0.827 0.120 19 15192033 synonymous variant T/A;C snv 4.0E-06; 0.85
CUI: C1134719
Disease: Invasive Ductal Breast Carcinoma
Invasive Ductal Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1043994
rs1043994 		0.827 0.120 19 15192033 synonymous variant T/A;C snv 4.0E-06; 0.85
CUI: C0007124
Disease: Noninfiltrating Intraductal Carcinoma
Noninfiltrating Intraductal Carcinoma 		Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs1043994
rs1043994 		0.827 0.120 19 15192033 synonymous variant T/A;C snv 4.0E-06; 0.85
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1043997
rs1043997 		1.000 0.120 19 15181626 synonymous variant T/C snv 0.80 0.77
CUI: C3178801
Disease: Stroke, Lacunar
Stroke, Lacunar 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases 0.010 < 0.001 1 2015 2015
dbSNP: rs1044006
rs1044006 		1.000 0.120 19 15174241 synonymous variant T/A;C snv 0.86
CUI: C0007785
Disease: Cerebral Infarction
Cerebral Infarction 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1044009
rs1044009 		1.000 0.120 19 15160960 missense variant G/A snv 0.71 0.69
CUI: C0007785
Disease: Cerebral Infarction
Cerebral Infarction 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1057519101
rs1057519101 		1.000 19 15185371 missense variant G/A snv 8.2E-06 7.0E-06
CUI: C4551768
Disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 		0.700 0
dbSNP: rs1167405466
rs1167405466 		1.000 19 15180761 missense variant T/C snv 7.0E-06
CUI: C4551768
Disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 		0.700 1.000 20 1997 2013
dbSNP: rs1188389375
rs1188389375 		1.000 0.160 19 15192193 missense variant C/A snv
CUI: C0751587
Disease: CADASIL Syndrome
CADASIL Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1209610920
rs1209610920 		1.000 19 15178878 missense variant C/T snv 7.0E-06
CUI: C4551768
Disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 		0.700 1.000 20 1997 2013
dbSNP: rs1236699193
rs1236699193 		0.882 0.120 19 15192202 missense variant C/A;T snv 4.1E-06
CUI: C3809084
Disease: MYOFIBROMATOSIS, INFANTILE, 2
MYOFIBROMATOSIS, INFANTILE, 2 		0.700 0
dbSNP: rs1236699193
rs1236699193 		0.882 0.120 19 15192202 missense variant C/A;T snv 4.1E-06
CUI: C1851710
Disease: LATERAL MENINGOCELE SYNDROME
LATERAL MENINGOCELE SYNDROME 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1236699193
rs1236699193 		0.882 0.120 19 15192202 missense variant C/A;T snv 4.1E-06
CUI: C4551768
Disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 		0.700 0
dbSNP: rs1313319587
rs1313319587 		1.000 19 15188276 missense variant C/A;T snv
CUI: C4551768
Disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 		0.700 0
dbSNP: rs1323608032
rs1323608032 		1.000 19 15189109 missense variant C/A snv
CUI: C4551768
Disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 		0.800 1.000 4 2000 2009
dbSNP: rs1328784046
rs1328784046 		0.925 0.160 19 15185502 missense variant T/C snv
CUI: C0751587
Disease: CADASIL Syndrome
CADASIL Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1328784046
rs1328784046 		0.925 0.160 19 15185502 missense variant T/C snv
CUI: C4551768
Disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 		0.700 0
dbSNP: rs137852641
rs137852641 		0.925 0.160 19 15191466 missense variant G/A snv
CUI: C4551768
Disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 		0.800 1.000 22 1997 2014
dbSNP: rs137852641
rs137852641 		0.925 0.160 19 15191466 missense variant G/A snv
CUI: C0751587
Disease: CADASIL Syndrome
CADASIL Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2005 2005
dbSNP: rs137852642
rs137852642 		0.827 0.200 19 15192242 missense variant G/A;T snv 4.5E-06; 4.5E-06
CUI: C4551768
Disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 		0.800 1.000 20 1997 2013
dbSNP: rs137852642
rs137852642 		0.827 0.200 19 15192242 missense variant G/A;T snv 4.5E-06; 4.5E-06
CUI: C0751587
Disease: CADASIL Syndrome
CADASIL Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases 0.100 1.000 12 2000 2020