Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs864622056
rs864622056
NOTCH1
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
NOTCH1
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
NOTCH1
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
NOTCH1
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
NOTCH1
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
NOTCH1
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
NOTCH1
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: rs1554728428
rs1554728428
NOTCH1
1.000 9 136508291 stop gained C/T snv
CUI: C4014970
Disease: ADAMS-OLIVER SYNDROME 5
ADAMS-OLIVER SYNDROME 5 		0.700 0
dbSNP: rs1554729118
rs1554729118
NOTCH1
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
NOTCH1
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
NOTCH1
1.000 9 136517797 frameshift variant T/- del
CUI: C4014970
Disease: ADAMS-OLIVER SYNDROME 5
ADAMS-OLIVER SYNDROME 5 		0.700 0
dbSNP: rs756434709
rs756434709
NOTCH1
9 136514670 missense variant C/T snv 2.0E-05 7.0E-06
CUI: C0009782
Disease: Connective Tissue Diseases
Connective Tissue Diseases 		0.700 0
dbSNP: rs869025494
rs869025494
NOTCH1
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: rs11574906
rs11574906
NOTCH1
1.000 0.040 9 136501661 intron variant T/A snv 8.5E-02
CUI: C0033860
Disease: Psoriasis
Psoriasis 		0.700 1.000 1 2012 2012
dbSNP: rs13300218
rs13300218
NOTCH1
0.925 0.040 9 136505189 intron variant G/A snv 7.5E-02
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		0.700 1.000 1 2015 2015
dbSNP: rs13300218
rs13300218
NOTCH1
0.925 0.040 9 136505189 intron variant G/A snv 7.5E-02
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		0.700 1.000 1 2015 2015
dbSNP: rs13300218
rs13300218
NOTCH1
0.925 0.040 9 136505189 intron variant G/A snv 7.5E-02
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.700 1.000 1 2015 2015
dbSNP: rs139994842
rs139994842
NOTCH1
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 		0.010 1.000 1 2016 2016
dbSNP: rs139994842
rs139994842
NOTCH1
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
NOTCH1
0.925 0.040 9 136508308 missense variant G/A;C snv 1.5E-03
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome 		0.010 1.000 1 2018 2018
dbSNP: rs182330532
rs182330532
NOTCH1
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 		0.010 1.000 1 2017 2017
dbSNP: rs191645600
rs191645600
NOTCH1
1.000 0.040 9 136505728 missense variant G/T snv 5.8E-04 6.0E-04
CUI: C0003486
Disease: Aortic Aneurysm
Aortic Aneurysm 		0.010 1.000 1 2007 2007
dbSNP: rs557319054
rs557319054
NOTCH1
1.000 0.040 9 136502086 missense variant G/A;T snv 8.1E-06; 1.2E-05
CUI: C0149630
Disease: Bicuspid aortic valve
Bicuspid aortic valve 		0.010 1.000 1 2006 2006
dbSNP: rs61751489
rs61751489
NOTCH1
1.000 0.040 9 136496886 missense variant C/T snv 3.1E-02 1.8E-02
CUI: C0149630
Disease: Bicuspid aortic valve
Bicuspid aortic valve 		0.010 1.000 1 2016 2016
dbSNP: rs1554728034
rs1554728034
NOTCH1
1.000 0.040 9 136505844 frameshift variant ACGAGCGT/- delins
CUI: C0010606
Disease: Adenoid Cystic Carcinoma
Adenoid Cystic Carcinoma 		0.700 0