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: rs34338511
rs34338511 		19 15184354 missense variant G/A;T snv 6.1E-04; 4.0E-06
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs34338511
rs34338511 		19 15184354 missense variant G/A;T snv 6.1E-04; 4.0E-06
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs34338511
rs34338511 		19 15184354 missense variant G/A;T snv 6.1E-04; 4.0E-06
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2012 2012
dbSNP: rs61749020
rs61749020 		19 15189325 synonymous variant A/C;G;T snv 2.6E-02
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1568362252
rs1568362252 		19 15192490 missense variant C/T snv
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs201118034
rs201118034 		0.827 0.200 19 15187315 missense variant G/A;C snv 3.2E-04; 4.0E-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 		0.800 1.000 29 1997 2015
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
dbSNP: rs201118034
rs201118034 		0.827 0.200 19 15187315 missense variant G/A;C snv 3.2E-04; 4.0E-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 0.030 1.000 3 2013 2015
dbSNP: rs201118034
rs201118034 		0.827 0.200 19 15187315 missense variant G/A;C snv 3.2E-04; 4.0E-06
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.030 1.000 3 2013 2019
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: rs201118034
rs201118034 		0.827 0.200 19 15187315 missense variant G/A;C snv 3.2E-04; 4.0E-06
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		Mental Disorders 0.020 1.000 2 2014 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: rs137852642
rs137852642 		0.827 0.200 19 15192242 missense variant G/A;T snv 4.5E-06; 4.5E-06
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2006 2006
dbSNP: rs137852642
rs137852642 		0.827 0.200 19 15192242 missense variant G/A;T snv 4.5E-06; 4.5E-06
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders 		Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs137852642
rs137852642 		0.827 0.200 19 15192242 missense variant G/A;T snv 4.5E-06; 4.5E-06
CUI: C0497327
Disease: Dementia
Dementia 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2006 2006
dbSNP: rs137852642
rs137852642 		0.827 0.200 19 15192242 missense variant G/A;T snv 4.5E-06; 4.5E-06
CUI: C0235031
Disease: Neurologic Symptoms
Neurologic Symptoms 		Pathological Conditions, Signs and Symptoms; Nervous System 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: C1399357
Disease: Hemiparaesthesia
Hemiparaesthesia 		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: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs3815188
rs3815188 		0.827 0.120 19 15192414 synonymous variant G/A;T snv 0.17
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2013 2013