NOTCH1, notch receptor 1, 4851

N. diseases: 693; N. variants: 64
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: rs1057518661
rs1057518661 		1.000 0.080 9 136497391 stop gained G/C snv
CUI: C3887892
Disease: Aortic Valve Disease 1
Aortic Valve Disease 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs1554728034
rs1554728034 		1.000 0.040 9 136505844 frameshift variant ACGAGCGT/- delins
CUI: C0010606
Disease: Adenoid Cystic Carcinoma
Adenoid Cystic Carcinoma 		Neoplasms 0.700 0
dbSNP: rs1554728428
rs1554728428 		1.000 9 136508291 stop gained C/T snv
CUI: C4014970
Disease: ADAMS-OLIVER SYNDROME 5
ADAMS-OLIVER SYNDROME 5 		0.700 0
dbSNP: rs1554728658
rs1554728658 		1.000 0.040 9 136509877 missense variant C/T snv
CUI: C0010606
Disease: Adenoid Cystic Carcinoma
Adenoid Cystic Carcinoma 		Neoplasms 0.700 0
dbSNP: rs1554729118
rs1554729118 		1.000 9 136513123 stop gained G/A snv
CUI: C4014970
Disease: ADAMS-OLIVER SYNDROME 5
ADAMS-OLIVER SYNDROME 5 		0.700 0
dbSNP: rs1564191302
rs1564191302 		1.000 9 136505825 stop gained G/T snv
CUI: C4014970
Disease: ADAMS-OLIVER SYNDROME 5
ADAMS-OLIVER SYNDROME 5 		0.700 0
dbSNP: rs1564199476
rs1564199476 		1.000 9 136517797 frameshift variant T/- del
CUI: C4014970
Disease: ADAMS-OLIVER SYNDROME 5
ADAMS-OLIVER SYNDROME 5 		0.700 0
dbSNP: rs41309764
rs41309764 		1.000 0.080 9 136508238 stop gained G/A snv
CUI: C3887892
Disease: Aortic Valve Disease 1
Aortic Valve Disease 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs41309766
rs41309766 		1.000 0.080 9 136505384 frameshift variant G/- del
CUI: C3887892
Disease: Aortic Valve Disease 1
Aortic Valve Disease 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs61755997
rs61755997 		0.925 0.080 9 136515599 missense variant G/A snv 1.5E-04 2.0E-04
CUI: C3887892
Disease: Aortic Valve Disease 1
Aortic Valve Disease 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs756434709
rs756434709 		9 136514670 missense variant C/T snv 2.0E-05 7.0E-06
CUI: C0009782
Disease: Connective Tissue Diseases
Connective Tissue Diseases 		Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs863224901
rs863224901 		1.000 0.080 9 136513108 frameshift variant C/- del
CUI: C3887892
Disease: Aortic Valve Disease 1
Aortic Valve Disease 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs869025494
rs869025494 		1.000 9 136517851 stop gained G/A snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 0
dbSNP: rs557319054
rs557319054 		1.000 0.040 9 136502086 missense variant G/A;T snv 8.1E-06; 1.2E-05
CUI: C0149630
Disease: Bicuspid aortic valve
Bicuspid aortic valve 		Cardiovascular Diseases 0.010 1.000 1 2006 2006
dbSNP: rs61755997
rs61755997 		0.925 0.080 9 136515599 missense variant G/A snv 1.5E-04 2.0E-04
CUI: C0149630
Disease: Bicuspid aortic valve
Bicuspid aortic valve 		Cardiovascular Diseases 0.010 1.000 1 2006 2006
dbSNP: rs1442744764
rs1442744764 		1.000 0.120 9 136496490 missense variant G/A snv 4.2E-06
CUI: C0079772
Disease: T-Cell Lymphoma
T-Cell Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2007 2007
dbSNP: rs191645600
rs191645600 		1.000 0.040 9 136505728 missense variant G/T snv 5.8E-04 6.0E-04
CUI: C0003486
Disease: Aortic Aneurysm
Aortic Aneurysm 		Cardiovascular Diseases 0.010 1.000 1 2007 2007
dbSNP: rs756434709
rs756434709 		9 136514670 missense variant C/T snv 2.0E-05 7.0E-06
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.010 1.000 1 2011 2011
dbSNP: rs11574906
rs11574906 		1.000 0.040 9 136501661 intron variant T/A snv 8.5E-02
CUI: C0033860
Disease: Psoriasis
Psoriasis 		Skin and Connective Tissue Diseases 0.700 1.000 1 2012 2012
dbSNP: rs761508282
rs761508282 		1.000 0.080 9 136508288 missense variant G/C snv 8.1E-06 2.1E-05
CUI: C0428791
Disease: Aortic valve calcification
Aortic valve calcification 		Nutritional and Metabolic Diseases; Cardiovascular Diseases 0.010 1.000 1 2013 2013
dbSNP: rs761508282
rs761508282 		1.000 0.080 9 136508288 missense variant G/C snv 8.1E-06 2.1E-05
CUI: C0856747
Disease: Aneurysm of ascending aorta
Aneurysm of ascending aorta 		Respiratory Tract Diseases; Cardiovascular Diseases 0.010 1.000 1 2013 2013
dbSNP: rs3124591
rs3124591 		0.827 0.120 9 136495945 3 prime UTR variant C/T snv 0.62
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014
dbSNP: rs3124591
rs3124591 		0.827 0.120 9 136495945 3 prime UTR variant C/T snv 0.62
CUI: C0007124
Disease: Noninfiltrating Intraductal Carcinoma
Noninfiltrating Intraductal Carcinoma 		Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs3124591
rs3124591 		0.827 0.120 9 136495945 3 prime UTR variant C/T snv 0.62
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014
dbSNP: rs3124591
rs3124591 		0.827 0.120 9 136495945 3 prime UTR variant C/T snv 0.62
CUI: C1134719
Disease: Invasive Ductal Breast Carcinoma
Invasive Ductal Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014