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: 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: rs2125489
rs2125489 		1.000 0.040 4 55087316 intron variant G/A snv 7.6E-02
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis 		Hemic and Lymphatic Diseases 0.010 1.000 1 2010 2010
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: 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: 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: 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: rs868047715
rs868047715 		4 55089696 missense variant G/A snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs868047715
rs868047715 		4 55089696 missense variant G/A snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs868047715
rs868047715 		4 55089696 missense variant G/A snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs754208569
rs754208569 		4 55089798 missense variant C/T snv 2.4E-05
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs56302315
rs56302315 		0.827 0.160 4 55089802 missense variant C/T snv 5.3E-04 4.1E-04
CUI: C0220644
Disease: Childhood Hodgkin Lymphoma
Childhood Hodgkin Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs56302315
rs56302315 		0.827 0.160 4 55089802 missense variant C/T snv 5.3E-04 4.1E-04
CUI: C0019829
Disease: Hodgkin Disease
Hodgkin Disease 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs56302315
rs56302315 		0.827 0.160 4 55089802 missense variant C/T snv 5.3E-04 4.1E-04
CUI: C0018923
Disease: Hemangiosarcoma
Hemangiosarcoma 		Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs56302315
rs56302315 		0.827 0.160 4 55089802 missense variant C/T snv 5.3E-04 4.1E-04
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2015 2015
dbSNP: rs56302315
rs56302315 		0.827 0.160 4 55089802 missense variant C/T snv 5.3E-04 4.1E-04
CUI: C0220597
Disease: Adult Hodgkin Lymphoma
Adult Hodgkin Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2016 2016
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: 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: rs6828477
rs6828477 		0.925 0.160 4 55100634 intron variant C/T snv 0.59
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: rs6828477
rs6828477 		0.925 0.160 4 55100634 intron variant C/T snv 0.59
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.010 < 0.001 1 2015 2015
dbSNP: rs2305945
rs2305945 		1.000 0.080 4 55105679 intron variant G/T snv 0.35
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: 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