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: rs1057515422
rs1057515422 		1.000 0.080 9 136513049 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 1.000 2 2005 2016
dbSNP: rs1057515423
rs1057515423 		1.000 0.080 9 136506852 stop gained G/T snv
CUI: C3887892
Disease: Aortic Valve Disease 1
Aortic Valve Disease 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 2 2005 2016
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: rs1057523819
rs1057523819 		1.000 9 136517800 missense variant C/T snv
CUI: C4014970
Disease: ADAMS-OLIVER SYNDROME 5
ADAMS-OLIVER SYNDROME 5 		0.700 1.000 1 2018 2018
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: 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
dbSNP: rs13300218
rs13300218 		0.925 0.040 9 136505189 intron variant G/A snv 7.5E-02
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs1348892740
rs1348892740 		9 136523954 stop gained G/A snv 6.2E-06
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 19 1999 2019
dbSNP: rs1387329667
rs1387329667 		9 136500595 missense variant G/A snv
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.010 1.000 1 2015 2015
dbSNP: rs1387329667
rs1387329667 		9 136500595 missense variant G/A snv
CUI: C0302142
Disease: Deformity
Deformity 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.010 1.000 1 2015 2015
dbSNP: rs139994842
rs139994842 		0.925 0.040 9 136508308 missense variant G/A;C snv 1.5E-03
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs139994842
rs139994842 		0.925 0.040 9 136508308 missense variant G/A;C snv 1.5E-03
CUI: C0237123
Disease: Alcohol or Other Drugs use
Alcohol or Other Drugs use 		0.010 1.000 1 2016 2016
dbSNP: rs139994842
rs139994842 		0.925 0.040 9 136508308 missense variant G/A;C snv 1.5E-03
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2018 2018
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: rs1448345366
rs1448345366 		1.000 9 136510689 missense variant G/A snv 4.2E-06 7.0E-06
CUI: C4014970
Disease: ADAMS-OLIVER SYNDROME 5
ADAMS-OLIVER SYNDROME 5 		0.700 1.000 1 2018 2018
dbSNP: rs1554727954
rs1554727954 		1.000 9 136505347 missense variant C/T snv
CUI: C4014970
Disease: ADAMS-OLIVER SYNDROME 5
ADAMS-OLIVER SYNDROME 5 		0.700 1.000 1 2018 2018
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: rs1554728424
rs1554728424 		1.000 9 136508276 missense variant C/T snv
CUI: C4014970
Disease: ADAMS-OLIVER SYNDROME 5
ADAMS-OLIVER SYNDROME 5 		0.700 1.000 1 2018 2018
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: rs1554728529
rs1554728529 		1.000 9 136508989 frameshift variant A/- del
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 19 1999 2019
dbSNP: rs1554728529
rs1554728529 		1.000 9 136508989 frameshift variant A/- del
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 19 1999 2019
dbSNP: rs1554728529
rs1554728529 		1.000 9 136508989 frameshift variant A/- del
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 19 1999 2019
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: rs1554729113
rs1554729113 		1.000 9 136513108 stop gained C/A;T snv
CUI: C4014970
Disease: ADAMS-OLIVER SYNDROME 5
ADAMS-OLIVER SYNDROME 5 		0.700 1.000 1 2018 2018