KDR, kinase insert domain receptor, 3791

N. diseases: 623; N. variants: 23
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: rs11941492
rs11941492 		1.000 0.080 4 55112043 intron variant C/T snv 0.24
CUI: C0279628
Disease: Adenocarcinoma Of Esophagus
Adenocarcinoma Of Esophagus 		Digestive System Diseases; Neoplasms 0.020 1.000 2 2011 2012
dbSNP: rs56302315
rs56302315 		0.827 0.160 4 55089802 missense variant C/T snv 5.3E-04 4.1E-04
CUI: C0220597
Disease: Adult Hodgkin Lymphoma
Adult Hodgkin Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1531289
rs1531289 		0.925 0.080 4 55089065 intron variant T/A;C snv
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.020 1.000 2 2012 2019
dbSNP: rs2071559
rs2071559 		0.667 0.680 4 55126199 upstream gene variant A/G snv 0.53
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.020 0.500 2 2010 2013
dbSNP: rs4576072
rs4576072 		0.882 0.200 4 55120071 intron variant T/C snv 0.12
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.010 < 0.001 1 2015 2015
dbSNP: rs6828477
rs6828477 		0.925 0.160 4 55100634 intron variant C/T snv 0.59
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.010 < 0.001 1 2015 2015
dbSNP: rs1531289
rs1531289 		0.925 0.080 4 55089065 intron variant T/A;C snv
CUI: C0002871
Disease: Anemia
Anemia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2013 2013
dbSNP: rs7667298
rs7667298 		0.827 0.120 4 55125564 5 prime UTR variant T/C snv 0.48
CUI: C0002962
Disease: Angina Pectoris
Angina Pectoris 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1870377
rs1870377 		0.695 0.520 4 55106807 missense variant T/A snv 0.22 0.20
CUI: C0003467
Disease: Anxiety
Anxiety 		Behavior and Behavior Mechanisms 0.010 1.000 1 2019 2019
dbSNP: rs2071559
rs2071559 		0.667 0.680 4 55126199 upstream gene variant A/G snv 0.53
CUI: C0003467
Disease: Anxiety
Anxiety 		Behavior and Behavior Mechanisms 0.010 1.000 1 2019 2019
dbSNP: rs1870377
rs1870377 		0.695 0.520 4 55106807 missense variant T/A snv 0.22 0.20
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders 		Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs2071559
rs2071559 		0.667 0.680 4 55126199 upstream gene variant A/G snv 0.53
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders 		Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs1870377
rs1870377 		0.695 0.520 4 55106807 missense variant T/A snv 0.22 0.20
CUI: C0004114
Disease: Astrocytoma
Astrocytoma 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs2071559
rs2071559 		0.667 0.680 4 55126199 upstream gene variant A/G snv 0.53
CUI: C0004114
Disease: Astrocytoma
Astrocytoma 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs2305948
rs2305948 		0.732 0.400 4 55113391 missense variant C/A;T snv 4.0E-06; 0.11
CUI: C0004114
Disease: Astrocytoma
Astrocytoma 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs2305948
rs2305948 		0.732 0.400 4 55113391 missense variant C/A;T snv 4.0E-06; 0.11
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 2 2018 2018
dbSNP: rs34231037
rs34231037 		0.882 0.160 4 55106779 missense variant A/G snv 2.3E-02 2.3E-02
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs11133360
rs11133360 		0.925 0.080 4 55116585 intron variant C/T snv 0.50
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2019 2019
dbSNP: rs4576072
rs4576072 		0.882 0.200 4 55120071 intron variant T/C snv 0.12
CUI: C0006287
Disease: Bronchopulmonary Dysplasia
Bronchopulmonary Dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases 0.010 1.000 1 2015 2015
dbSNP: rs2071559
rs2071559 		0.667 0.680 4 55126199 upstream gene variant A/G snv 0.53
CUI: C0577631
Disease: Carotid Atherosclerosis
Carotid Atherosclerosis 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs2071559
rs2071559 		0.667 0.680 4 55126199 upstream gene variant A/G snv 0.53
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2009 2009
dbSNP: rs2305948
rs2305948 		0.732 0.400 4 55113391 missense variant C/A;T snv 4.0E-06; 0.11
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2009 2009
dbSNP: rs56302315
rs56302315 		0.827 0.160 4 55089802 missense variant C/T snv 5.3E-04 4.1E-04
CUI: C0220644
Disease: Childhood Hodgkin Lymphoma
Childhood Hodgkin Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs2305948
rs2305948 		0.732 0.400 4 55113391 missense variant C/A;T snv 4.0E-06; 0.11
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs2305948
rs2305948 		0.732 0.400 4 55113391 missense variant C/A;T snv 4.0E-06; 0.11
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.030 1.000 3 2012 2019