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: 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: 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: 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: 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: rs1870378
rs1870378 		1.000 0.080 4 55100286 intron variant C/T snv 0.21
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: 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: rs2071559
rs2071559 		0.667 0.680 4 55126199 upstream gene variant A/G snv 0.53
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs2071559
rs2071559 		0.667 0.680 4 55126199 upstream gene variant A/G snv 0.53
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.010 1.000 1 2014 2014
dbSNP: rs2071559
rs2071559 		0.667 0.680 4 55126199 upstream gene variant A/G snv 0.53
CUI: C0018023
Disease: Nodular Goiter
Nodular Goiter 		Endocrine System Diseases 0.010 1.000 1 2020 2020
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: rs2071559
rs2071559 		0.667 0.680 4 55126199 upstream gene variant A/G snv 0.53
CUI: C3163918
Disease: Tumor thrombus
Tumor thrombus 		Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs2071559
rs2071559 		0.667 0.680 4 55126199 upstream gene variant A/G snv 0.53
CUI: C0011884
Disease: Diabetic Retinopathy
Diabetic Retinopathy 		Eye Diseases; Endocrine System Diseases; Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs2071559
rs2071559 		0.667 0.680 4 55126199 upstream gene variant A/G snv 0.53
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma 		Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs2071559
rs2071559 		0.667 0.680 4 55126199 upstream gene variant A/G snv 0.53
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs2071559
rs2071559 		0.667 0.680 4 55126199 upstream gene variant A/G snv 0.53
CUI: C0342199
Disease: Iodine deficiency syndrome
Iodine deficiency syndrome 		Endocrine System Diseases 0.010 1.000 1 2020 2020
dbSNP: rs2071559
rs2071559 		0.667 0.680 4 55126199 upstream gene variant A/G snv 0.53
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 < 0.001 1 2013 2013