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: rs754529382
rs754529382 		1.000 9 136518172 missense variant G/A;C snv 1.4E-05
CUI: C4014970
Disease: ADAMS-OLIVER SYNDROME 5
ADAMS-OLIVER SYNDROME 5 		0.700 1.000 1 2015 2015
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: rs771590616
rs771590616 		1.000 9 136515976 splice region variant C/T snv 7.0E-06
CUI: C4014970
Disease: ADAMS-OLIVER SYNDROME 5
ADAMS-OLIVER SYNDROME 5 		0.700 1.000 1 2018 2018
dbSNP: rs864622056
rs864622056 		1.000 9 136517850 missense variant C/T snv
CUI: C4014970
Disease: ADAMS-OLIVER SYNDROME 5
ADAMS-OLIVER SYNDROME 5 		0.700 1.000 1 2015 2015
dbSNP: rs864622057
rs864622057 		1.000 9 136517848 missense variant A/G snv
CUI: C4014970
Disease: ADAMS-OLIVER SYNDROME 5
ADAMS-OLIVER SYNDROME 5 		0.700 1.000 1 2015 2015
dbSNP: rs864622058
rs864622058 		1.000 9 136517826 missense variant C/T snv
CUI: C4014970
Disease: ADAMS-OLIVER SYNDROME 5
ADAMS-OLIVER SYNDROME 5 		0.700 1.000 1 2015 2015
dbSNP: rs864622059
rs864622059 		1.000 9 136516000 stop gained -/T delins
CUI: C4014970
Disease: ADAMS-OLIVER SYNDROME 5
ADAMS-OLIVER SYNDROME 5 		0.700 1.000 1 2015 2015
dbSNP: rs864622060
rs864622060 		1.000 9 136505776 missense variant A/G snv
CUI: C4014970
Disease: ADAMS-OLIVER SYNDROME 5
ADAMS-OLIVER SYNDROME 5 		0.700 1.000 1 2015 2015
dbSNP: rs864622061
rs864622061 		1.000 9 136504951 frameshift variant -/A delins 4.9E-06
CUI: C4014970
Disease: ADAMS-OLIVER SYNDROME 5
ADAMS-OLIVER SYNDROME 5 		0.700 1.000 1 2015 2015
dbSNP: rs864622063
rs864622063 		1.000 9 136499144 frameshift variant AG/- delins
CUI: C4014970
Disease: ADAMS-OLIVER SYNDROME 5
ADAMS-OLIVER SYNDROME 5 		0.700 1.000 1 2015 2015
dbSNP: rs937736862
rs937736862 		1.000 0.120 9 136496526 stop gained G/A snv
CUI: C1961099
Disease: Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2015 2015
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: 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: rs13300218
rs13300218 		0.925 0.040 9 136505189 intron variant G/A snv 7.5E-02
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs13300218
rs13300218 		0.925 0.040 9 136505189 intron variant G/A snv 7.5E-02
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		Digestive System Diseases 0.700 1.000 1 2015 2015