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: 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: rs182330532
rs182330532 		1.000 0.040 9 136506782 missense variant G/A snv 3.7E-04 5.7E-04
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 1.000 1 2017 2017
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: rs201620358
rs201620358 		1.000 0.080 9 136510659 missense variant G/A snv 1.7E-03 2.2E-03
CUI: C0021828
Disease: Intestinal Atresia
Intestinal Atresia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.010 1.000 1 2019 2019
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: rs3124594
rs3124594 		0.882 0.080 9 136501956 intron variant A/G snv 0.59 0.62
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 < 0.001 1 2017 2017
dbSNP: rs3124594
rs3124594 		0.882 0.080 9 136501956 intron variant A/G snv 0.59 0.62
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 < 0.001 1 2017 2017
dbSNP: rs3124594
rs3124594 		0.882 0.080 9 136501956 intron variant A/G snv 0.59 0.62
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: 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
dbSNP: rs3124599
rs3124599 		0.851 0.080 9 136509318 intron variant G/A snv 0.13
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 < 0.001 1 2017 2017
dbSNP: rs3124607
rs3124607 		0.882 0.080 9 136520387 intron variant G/A;C snv
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 < 0.001 1 2017 2017
dbSNP: rs3124607
rs3124607 		0.882 0.080 9 136520387 intron variant G/A;C snv
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 < 0.001 1 2017 2017