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: rs2305948
rs2305948 		0.732 0.400 4 55113391 missense variant C/A;T snv 4.0E-06; 0.11
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.040 1.000 4 2012 2017
dbSNP: rs121917766
rs121917766 		0.925 0.080 4 55088939 missense variant G/A;C snv 9.2E-05; 4.0E-06
CUI: C1865871
Disease: HEMANGIOMA, CAPILLARY INFANTILE
HEMANGIOMA, CAPILLARY INFANTILE 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.800 1.000 3 2002 2008
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
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: rs2305948
rs2305948 		0.732 0.400 4 55113391 missense variant C/A;T snv 4.0E-06; 0.11
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.020 1.000 2 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: rs2305948
rs2305948 		0.732 0.400 4 55113391 missense variant C/A;T snv 4.0E-06; 0.11
CUI: C0017638
Disease: Glioma
Glioma 		Neoplasms 0.020 1.000 2 2012 2016
dbSNP: rs121917766
rs121917766 		0.925 0.080 4 55088939 missense variant G/A;C snv 9.2E-05; 4.0E-06
CUI: C0018916
Disease: Hemangioma
Hemangioma 		Neoplasms 0.010 1.000 1 2002 2002
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: rs2305948
rs2305948 		0.732 0.400 4 55113391 missense variant C/A;T snv 4.0E-06; 0.11
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 < 0.001 1 2014 2014
dbSNP: rs2305948
rs2305948 		0.732 0.400 4 55113391 missense variant C/A;T snv 4.0E-06; 0.11
CUI: C0334511
Disease: Pleural Solitary Fibrous Tumor
Pleural Solitary Fibrous Tumor 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs2305948
rs2305948 		0.732 0.400 4 55113391 missense variant C/A;T snv 4.0E-06; 0.11
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System 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: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 < 0.001 1 2014 2014
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: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs2305948
rs2305948 		0.732 0.400 4 55113391 missense variant C/A;T snv 4.0E-06; 0.11
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System 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: C0037011
Disease: Shoulder Pain
Shoulder Pain 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases 0.010 1.000 1 2019 2019
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: rs2305948
rs2305948 		0.732 0.400 4 55113391 missense variant C/A;T snv 4.0E-06; 0.11
CUI: C0085083
Disease: Ovarian Hyperstimulation Syndrome
Ovarian Hyperstimulation Syndrome 		Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs2305948
rs2305948 		0.732 0.400 4 55113391 missense variant C/A;T snv 4.0E-06; 0.11
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs2305948
rs2305948 		0.732 0.400 4 55113391 missense variant C/A;T snv 4.0E-06; 0.11
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
Diffuse Large B-Cell Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs2305949
rs2305949 		4 55114289 intron variant C/A;T snv 4.0E-06; 0.18
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs754208569
rs754208569 		4 55089798 missense variant C/T snv 2.4E-05
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs7666097
rs7666097 		4 55124971 intron variant T/A;C snv
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012