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: 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: 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: 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: 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: 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
dbSNP: rs3124607
rs3124607 		0.882 0.080 9 136520387 intron variant G/A;C snv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 < 0.001 1 2017 2017
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: 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: 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
dbSNP: rs1554730670
rs1554730670 		1.000 9 136523177 stop gained G/A snv
CUI: C4014970
Disease: ADAMS-OLIVER SYNDROME 5
ADAMS-OLIVER SYNDROME 5 		0.700 1.000 1 2018 2018
dbSNP: rs587778569
rs587778569 		1.000 9 136505674 stop gained C/A;T snv 2.1E-05 4.2E-05
CUI: C4014970
Disease: ADAMS-OLIVER SYNDROME 5
ADAMS-OLIVER SYNDROME 5 		0.700 1.000 1 2018 2018