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: 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: 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: rs7667298
rs7667298 		0.827 0.120 4 55125564 5 prime UTR variant T/C snv 0.48
CUI: C0037011
Disease: Shoulder Pain
Shoulder Pain 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases 0.010 1.000 1 2019 2019
dbSNP: rs7667298
rs7667298 		0.827 0.120 4 55125564 5 prime UTR variant T/C snv 0.48
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis 		Hemic and Lymphatic Diseases 0.010 1.000 1 2010 2010
dbSNP: rs7667298
rs7667298 		0.827 0.120 4 55125564 5 prime UTR variant T/C snv 0.48
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs7667298
rs7667298 		0.827 0.120 4 55125564 5 prime UTR variant T/C snv 0.48
CUI: C0206733
Disease: Strawberry nevus of skin
Strawberry nevus of skin 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs7667298
rs7667298 		0.827 0.120 4 55125564 5 prime UTR variant T/C snv 0.48
CUI: C4317089
Disease: Infantile hemangioma
Infantile hemangioma 		Neoplasms; Cardiovascular Diseases 0.010 1.000 1 2018 2018
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
dbSNP: rs7666097
rs7666097 		4 55124971 intron variant T/A;C snv
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs7666097
rs7666097 		4 55124971 intron variant T/A;C snv
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs7666097
rs7666097 		4 55124971 intron variant T/A;C snv
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs7666097
rs7666097 		4 55124971 intron variant T/A;C snv
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2012 2012
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: 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: rs4576072
rs4576072 		0.882 0.200 4 55120071 intron variant T/C snv 0.12
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 2015 2015
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: 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: 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: 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