EGF, epidermal growth factor, 1950

N. diseases: 774; N. variants: 33
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: rs4444903
rs4444903 		0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.060 1.000 6 2011 2016
dbSNP: rs4444903
rs4444903 		0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51
CUI: C0017638
Disease: Glioma
Glioma 		Neoplasms 0.030 1.000 3 2012 2014
dbSNP: rs4444903
rs4444903 		0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		Digestive System Diseases; Infections 0.030 1.000 3 2012 2016
dbSNP: rs4444903
rs4444903 		0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.020 0.500 2 2012 2019
dbSNP: rs4444903
rs4444903 		0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.020 0.500 2 2013 2015
dbSNP: rs4444903
rs4444903 		0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51
CUI: C0279000
Disease: Liver and Intrahepatic Biliary Tract Carcinoma
Liver and Intrahepatic Biliary Tract Carcinoma 		Digestive System Diseases; Neoplasms 0.020 1.000 2 2012 2014
dbSNP: rs4444903
rs4444903 		0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51
CUI: C0220630
Disease: Adult Liver Carcinoma
Adult Liver Carcinoma 		Digestive System Diseases; Neoplasms 0.020 1.000 2 2012 2014
dbSNP: rs4444903
rs4444903 		0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.020 1.000 2 2009 2019
dbSNP: rs4444903
rs4444903 		0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.020 1.000 2 2009 2019
dbSNP: rs4444903
rs4444903 		0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51
CUI: C0345904
Disease: Malignant neoplasm of liver
Malignant neoplasm of liver 		Digestive System Diseases; Neoplasms 0.020 1.000 2 2012 2014
dbSNP: rs4444903
rs4444903 		0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.020 1.000 2 2012 2014
dbSNP: rs4444903
rs4444903 		0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51
CUI: C1623038
Disease: Cirrhosis
Cirrhosis 		Pathological Conditions, Signs and Symptoms 0.020 1.000 2 2012 2014
dbSNP: rs4444903
rs4444903 		0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.020 0.500 2 2012 2019
dbSNP: rs10029654
rs10029654 		1.000 0.040 4 109940771 intron variant G/A snv 0.38
CUI: C0239816
Disease: Hand eczema
Hand eczema 		Skin and Connective Tissue Diseases 0.010 1.000 1 2016 2016
dbSNP: rs11568835
rs11568835 		1.000 0.120 4 109911514 upstream gene variant G/A snv 2.7E-02
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs11568972
rs11568972 		4 109967851 intron variant A/C snv 0.27
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs11569142
rs11569142 		4 110010783 intron variant G/T snv 1.1E-02
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.700 1.000 1 2018 2018
dbSNP: rs1436919825
rs1436919825 		0.882 0.080 4 109976175 missense variant G/A snv
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1436919825
rs1436919825 		0.882 0.080 4 109976175 missense variant G/A snv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1436919825
rs1436919825 		0.882 0.080 4 109976175 missense variant G/A snv
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1860129
rs1860129 		4 109965187 intron variant G/C snv 0.55
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs2298991
rs2298991 		1.000 0.040 4 109970856 intron variant T/A;G snv
CUI: C0035222
Disease: Respiratory Distress Syndrome, Adult
Respiratory Distress Syndrome, Adult 		Respiratory Tract Diseases 0.010 1.000 1 2009 2009
dbSNP: rs28629923
rs28629923 		4 109932621 intron variant G/A snv 0.33
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs3756261
rs3756261 		0.925 0.160 4 109911150 upstream gene variant T/C snv 9.9E-02
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.010 < 0.001 1 2014 2014
dbSNP: rs3756261
rs3756261 		0.925 0.160 4 109911150 upstream gene variant T/C snv 9.9E-02
CUI: C0013537
Disease: Eclampsia
Eclampsia 		Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2014 2014