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: 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: rs1554826746
rs1554826746 		9 136499244 stop gained G/A snv
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: rs3124592
rs3124592 		9 136498710 intron variant G/A snv 0.55
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2017 2017
dbSNP: rs3124592
rs3124592 		9 136498710 intron variant G/A snv 0.55
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 1.000 1 2017 2017
dbSNP: rs3124596
rs3124596 		9 136507052 intron variant G/A snv 0.57
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2019 2019
dbSNP: rs6563
rs6563 		9 136494732 3 prime UTR variant A/G snv 0.51
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2019 2019
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: 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: 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
dbSNP: rs3124591
rs3124591 		0.827 0.120 9 136495945 3 prime UTR variant C/T snv 0.62
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2018 2018
dbSNP: rs3124591
rs3124591 		0.827 0.120 9 136495945 3 prime UTR variant C/T snv 0.62
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs3124998
rs3124998 		0.827 0.120 9 136494980 3 prime UTR variant C/T snv 3.0E-02
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.700 1.000 1 2016 2016
dbSNP: rs3124998
rs3124998 		0.827 0.120 9 136494980 3 prime UTR variant C/T snv 3.0E-02
CUI: C0033860
Disease: Psoriasis
Psoriasis 		Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs3124998
rs3124998 		0.827 0.120 9 136494980 3 prime UTR variant C/T snv 3.0E-02
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs3124998
rs3124998 		0.827 0.120 9 136494980 3 prime UTR variant C/T snv 3.0E-02
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs3124998
rs3124998 		0.827 0.120 9 136494980 3 prime UTR variant C/T snv 3.0E-02
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing 		Digestive System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs3124599
rs3124599 		0.851 0.080 9 136509318 intron variant G/A snv 0.13
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2017 2017
dbSNP: rs3124599
rs3124599 		0.851 0.080 9 136509318 intron variant G/A snv 0.13
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 < 0.001 1 2017 2017
dbSNP: rs3124599
rs3124599 		0.851 0.080 9 136509318 intron variant G/A snv 0.13
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2018 2018
dbSNP: rs3124599
rs3124599 		0.851 0.080 9 136509318 intron variant G/A snv 0.13
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 < 0.001 1 2017 2017