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: rs1555728965
rs1555728965 		0.925 0.080 19 15188277 missense variant A/C snv
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs201680145
rs201680145 		0.882 0.200 19 15179052 missense variant G/A;T snv 8.9E-04
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2012 2012
dbSNP: rs28933696
rs28933696 		0.882 0.160 19 15192134 missense variant G/A snv
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		Immune System Diseases 0.010 < 0.001 1 2014 2014
dbSNP: rs200504060
rs200504060 		0.925 0.080 19 15179220 missense variant G/A snv 9.9E-04 3.1E-04
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2017 2017
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: rs1555729604
rs1555729604 		0.925 0.160 19 15192449 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 0.040 1.000 4 2002 2017
dbSNP: rs145069047
rs145069047 		0.925 0.160 19 15192493 missense variant C/A;G;T snv 4.6E-06; 2.6E-04
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 2006 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: rs28933698
rs28933698 		0.882 0.160 19 15189004 missense variant A/G 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 0.030 1.000 3 2002 2017
dbSNP: rs1555727942
rs1555727942 		0.925 0.160 19 15180807 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 0.020 1.000 2 2006 2009
dbSNP: rs201680145
rs201680145 		0.882 0.200 19 15179052 missense variant G/A;T snv 8.9E-04
CUI: C0751587
Disease: CADASIL Syndrome
CADASIL Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases 0.720 1.000 2 2012 2016
dbSNP: rs75068032
rs75068032 		0.851 0.160 19 15187273 missense variant G/A;C;T snv 2.4E-05; 5.2E-05
CUI: C0751587
Disease: CADASIL Syndrome
CADASIL Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases 0.020 1.000 2 2013 2019
dbSNP: rs775836288
rs775836288 		0.925 0.160 19 15192389 missense variant G/A;C snv 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 0.020 1.000 2 2006 2017
dbSNP: rs797045014
rs797045014 		0.851 0.160 19 15192182 missense variant G/A;T 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 0.710 1.000 2 1997 2000
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: 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: 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: rs1438626607
rs1438626607 		1.000 0.160 19 15180173 missense variant G/A snv 1.4E-05
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 2019 2019
dbSNP: rs1555730189
rs1555730189 		0.925 0.160 19 15197537 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 2015 2015
dbSNP: rs28933696
rs28933696 		0.882 0.160 19 15192134 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 2014 2014
dbSNP: rs754554486
rs754554486 		1.000 0.160 19 15187186 missense variant G/A;C;T snv 3.6E-05; 4.0E-06; 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 0.010 1.000 1 2017 2017
dbSNP: rs768965053
rs768965053 		1.000 0.160 19 15192398 missense variant G/A;T snv 2.4E-05; 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 0.010 1.000 1 2012 2012
dbSNP: rs769773673
rs769773673 		0.925 0.160 19 15187213 missense variant G/A snv 4.0E-05 3.5E-05
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 2012 2012
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: rs3815188
rs3815188 		0.827 0.120 19 15192414 synonymous variant G/A;T snv 0.17
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2019 2019