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: 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: rs1226967393
rs1226967393
4 109969119 missense variant G/A;C snv 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.010 1.000 1 2017 2017
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: 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: rs377602035
rs377602035
4 109937360 intron variant TTTT/-;T;TT;TTT;TTTTT;TTTTTT;TTTTTTT delins
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement
0.700 1.000 1 2016 2016
dbSNP: rs887027
rs887027
4 109977659 intron variant C/A;T snv
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result)
0.700 1.000 1 2018 2018
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
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
Malignant neoplasm of colon and/or rectum
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: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2010 2010
dbSNP: rs4444903
rs4444903
0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51
Stage IIA Gallbladder Cancer AJCC v8
0.010 1.000 1 2008 2008
dbSNP: rs4444903
rs4444903
0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51
CUI: C0235782
Disease: Gallbladder Carcinoma
Gallbladder Carcinoma
Digestive System Diseases; Neoplasms 0.010 1.000 1 2008 2008
dbSNP: rs4444903
rs4444903
0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
Mental Disorders 0.010 1.000 1 2005 2005
dbSNP: rs4444903
rs4444903
0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51
Malignant neoplasm of gastrointestinal tract
Digestive System Diseases; Neoplasms 0.010 1.000 1 2013 2013