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: rs2071559
rs2071559 		0.667 0.680 4 55126199 upstream gene variant A/G snv 0.53
CUI: C0278678
Disease: Metastatic Renal Cell Cancer
Metastatic Renal Cell Cancer 		0.010 1.000 1 2015 2015
dbSNP: rs34231037
rs34231037 		0.882 0.160 4 55106779 missense variant A/G snv 2.3E-02 2.3E-02
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs34231037
rs34231037 		0.882 0.160 4 55106779 missense variant A/G snv 2.3E-02 2.3E-02
CUI: C0278678
Disease: Metastatic Renal Cell Cancer
Metastatic Renal Cell Cancer 		0.010 1.000 1 2017 2017
dbSNP: rs34231037
rs34231037 		0.882 0.160 4 55106779 missense variant A/G snv 2.3E-02 2.3E-02
CUI: C4722224
Disease: Vascular Endothelial Growth Factor Receptor 2 Measurement
Vascular Endothelial Growth Factor Receptor 2 Measurement 		0.700 1.000 1 2017 2017
dbSNP: rs34231037
rs34231037 		0.882 0.160 4 55106779 missense variant A/G snv 2.3E-02 2.3E-02
CUI: C4721698
Disease: Metastatic Renal Cell Carcinoma
Metastatic Renal Cell Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2017 2017
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: rs34231037
rs34231037 		0.882 0.160 4 55106779 missense variant A/G snv 2.3E-02 2.3E-02
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs34231037
rs34231037 		0.882 0.160 4 55106779 missense variant A/G snv 2.3E-02 2.3E-02
CUI: C1865871
Disease: HEMANGIOMA, CAPILLARY INFANTILE
HEMANGIOMA, CAPILLARY INFANTILE 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs12498529
rs12498529 		4 55084031 intron variant A/T snv 0.28
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 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: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.040 1.000 4 2012 2017
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: 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: 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