NOTCH4, notch receptor 4, 4855

N. diseases: 150; N. variants: 58
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: rs3131296
rs3131296 		0.807 0.320 6 32205216 intron variant C/T snv 0.11
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.810 0.667 3 2009 2014
dbSNP: rs2071277
rs2071277 		0.882 0.200 6 32203906 intron variant T/C snv 0.48 0.46
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.810 1.000 1 2012 2012
dbSNP: rs404860
rs404860 		0.925 0.160 6 32216568 non coding transcript exon variant T/C snv 0.21
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.810 1.000 1 2011 2011
dbSNP: rs443198
rs443198 		0.851 0.200 6 32222629 synonymous variant A/G snv 0.38 0.39
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		Skin and Connective Tissue Diseases 0.800 1.000 2 2010 2011
dbSNP: rs2071278
rs2071278 		1.000 0.120 6 32197667 intron variant A/G snv 0.13
CUI: C0577608
Disease: C4 complement assay (procedure)
C4 complement assay (procedure) 		0.800 1.000 1 2012 2012
dbSNP: rs3132935
rs3132935 		0.925 0.160 6 32203298 non coding transcript exon variant A/G;T snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.800 1.000 1 2013 2013
dbSNP: rs3134931
rs3134931 		6 32222843 intron variant T/C snv 0.35 0.37
CUI: C2698399
Disease: Myeloperoxidase Measurement
Myeloperoxidase Measurement 		0.800 1.000 1 2013 2013
dbSNP: rs715299
rs715299 		1.000 0.040 6 32222064 intron variant T/A;G snv
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis 		Hemic and Lymphatic Diseases 0.710 1.000 1 2012 2012
dbSNP: rs206015
rs206015 		0.925 0.200 6 32214982 intron variant G/A snv 0.15
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 3 2007 2011
dbSNP: rs3131296
rs3131296 		0.807 0.320 6 32205216 intron variant C/T snv 0.11
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 3 2007 2011
dbSNP: rs115344853
rs115344853 		1.000 0.040 6 32197667 intron variant A/G snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.700 1.000 2 2017 2019
dbSNP: rs3096702
rs3096702 		0.925 0.080 6 32224554 upstream gene variant A/G;T snv
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.700 1.000 2 2013 2018
dbSNP: rs3132946
rs3132946 		0.882 0.240 6 32222251 intron variant A/G snv 0.91
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 2 2007 2009
dbSNP: rs3830041
rs3830041 		0.752 0.280 6 32223562 intron variant C/T snv 0.11
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 2 2007 2009
dbSNP: rs115344853
rs115344853 		1.000 0.040 6 32197667 intron variant A/G snv
CUI: C0008074
Disease: Child Development Disorders, Pervasive
Child Development Disorders, Pervasive 		Mental Disorders 0.700 1.000 1 2017 2017
dbSNP: rs115695709
rs115695709 		6 32223562 intron variant C/T snv
CUI: C0201899
Disease: Aspartate aminotransferase measurement
Aspartate aminotransferase measurement 		0.700 1.000 1 2018 2018
dbSNP: rs115963308
rs115963308 		1.000 0.040 6 32223264 intron variant G/A;C snv
CUI: C0008074
Disease: Child Development Disorders, Pervasive
Child Development Disorders, Pervasive 		Mental Disorders 0.700 1.000 1 2017 2017
dbSNP: rs115963308
rs115963308 		1.000 0.040 6 32223264 intron variant G/A;C snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.700 1.000 1 2017 2017
dbSNP: rs13215567
rs13215567 		6 32195971 synonymous variant C/T snv 1.4E-05
CUI: C0162701
Disease: Polysomnography
Polysomnography 		0.700 1.000 1 2012 2012
dbSNP: rs138753323
rs138753323 		1.000 0.040 6 32205822 intron variant T/C snv 1.8E-02
CUI: C0149745
Disease: Oral Ulcer
Oral Ulcer 		Stomatognathic Diseases 0.700 1.000 1 2019 2019
dbSNP: rs147499485
rs147499485 		6 32216247 non coding transcript exon variant C/A;T snv
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2018 2018
dbSNP: rs16869834
rs16869834 		6 32211932 intron variant A/G snv 5.5E-02
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs206015
rs206015 		0.925 0.200 6 32214982 intron variant G/A snv 0.15
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.700 1.000 1 2007 2007
dbSNP: rs206016
rs206016 		0.925 0.160 6 32213405 intron variant G/A snv 0.14
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs2071277
rs2071277 		0.882 0.200 6 32203906 intron variant T/C snv 0.48 0.46
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 1 2009 2009