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: 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: 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
dbSNP: rs1870377
rs1870377 		0.695 0.520 4 55106807 missense variant T/A snv 0.22 0.20
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: rs1870377
rs1870377 		0.695 0.520 4 55106807 missense variant T/A snv 0.22 0.20
CUI: C0079218
Disease: Fibromatosis, Aggressive
Fibromatosis, Aggressive 		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: C4317089
Disease: Infantile hemangioma
Infantile hemangioma 		Neoplasms; Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1870377
rs1870377 		0.695 0.520 4 55106807 missense variant T/A snv 0.22 0.20
CUI: C0023895
Disease: Liver diseases
Liver diseases 		Digestive System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1870377
rs1870377 		0.695 0.520 4 55106807 missense variant T/A snv 0.22 0.20
CUI: C0206733
Disease: Strawberry nevus of skin
Strawberry nevus of skin 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs1870377
rs1870377 		0.695 0.520 4 55106807 missense variant T/A snv 0.22 0.20
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders 		Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs1870377
rs1870377 		0.695 0.520 4 55106807 missense variant T/A snv 0.22 0.20
CUI: C0025202
Disease: melanoma
melanoma 		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: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs1870377
rs1870377 		0.695 0.520 4 55106807 missense variant T/A snv 0.22 0.20
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases 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: C0004114
Disease: Astrocytoma
Astrocytoma 		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: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2011 2011
dbSNP: rs1870377
rs1870377 		0.695 0.520 4 55106807 missense variant T/A snv 0.22 0.20
CUI: C3163918
Disease: Tumor thrombus
Tumor thrombus 		Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1870377
rs1870377 		0.695 0.520 4 55106807 missense variant T/A snv 0.22 0.20
CUI: C0027651
Disease: Neoplasms
Neoplasms 		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: C0003467
Disease: Anxiety
Anxiety 		Behavior and Behavior Mechanisms 0.010 1.000 1 2019 2019
dbSNP: rs1870377
rs1870377 		0.695 0.520 4 55106807 missense variant T/A snv 0.22 0.20
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2019 2019