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: 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: 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: rs1870377
rs1870377 		0.695 0.520 4 55106807 missense variant T/A snv 0.22 0.20
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.020 1.000 2 2016 2016
dbSNP: rs1870377
rs1870377 		0.695 0.520 4 55106807 missense variant T/A snv 0.22 0.20
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.020 1.000 2 2010 2016
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: rs2071559
rs2071559 		0.667 0.680 4 55126199 upstream gene variant A/G snv 0.53
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.020 1.000 2 2014 2016
dbSNP: rs2071559
rs2071559 		0.667 0.680 4 55126199 upstream gene variant A/G snv 0.53
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.020 1.000 2 2014 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: rs7667298
rs7667298 		0.827 0.120 4 55125564 5 prime UTR variant T/C snv 0.48
CUI: C0017638
Disease: Glioma
Glioma 		Neoplasms 0.020 1.000 2 2012 2016
dbSNP: rs11133360
rs11133360 		0.925 0.080 4 55116585 intron variant C/T snv 0.50
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2019 2019
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: rs11941492
rs11941492 		1.000 0.080 4 55112043 intron variant C/T snv 0.24
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2014 2014
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: 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: rs1435582465
rs1435582465 		4 55114928 missense variant C/T snv 1.4E-05
CUI: C0810032
Disease: Pancreatic disorders (not diabetes)
Pancreatic disorders (not diabetes) 		Digestive System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1458831
rs1458831 		4 55092041 intron variant T/C snv 7.9E-02
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.700 1.000 1 2019 2019
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: rs1870377
rs1870377 		0.695 0.520 4 55106807 missense variant T/A snv 0.22 0.20
CUI: C0017638
Disease: Glioma
Glioma 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs1870377
rs1870377 		0.695 0.520 4 55106807 missense variant T/A snv 0.22 0.20
CUI: C2939419
Disease: Secondary Neoplasm
Secondary Neoplasm 		Pathological Conditions, Signs and Symptoms; Neoplasms 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: C0521585
Disease: Gastrointestinal mucositis
Gastrointestinal mucositis 		Digestive System Diseases; Stomatognathic Diseases 0.010 1.000 1 2015 2015