EGF, epidermal growth factor, 1950

N. diseases: 494; N. variants: 15
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: rs121434567
rs121434567
1.000 0.143 4 110004540 missense variant C/T snp 1.6E-05
CUI: C2673648
Disease: Hypomagnesemia 4, Renal
Hypomagnesemia 4, Renal
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nutritional and Metabolic Diseases 0.800 1 2007 2007
dbSNP: rs377602035
rs377602035
4 109937360 intron variant CTT/C in-del
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement
0.700 1 2017 2017
dbSNP: rs377602035
rs377602035
4 109937360 intron variant CTT/C in-del
CUI: C0474566
Disease: Platelet hematocrit measurement
Platelet hematocrit measurement
0.700 1 2017 2017
dbSNP: rs7692976
rs7692976
1.000 0.036 4 109990411 intron variant A/G,T snp 0.56
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure)
0.700 1 2017 2017
dbSNP: rs4444903
rs4444903
0.707 0.179 4 109912954 5 prime UTR variant A/G snp 0.50
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
Digestive System Diseases; Neoplasms 0.040 1.000 4 2011 2016
dbSNP: rs4444903
rs4444903
0.707 0.179 4 109912954 5 prime UTR variant A/G snp 0.50
CUI: C0017638
Disease: Glioma
Glioma
Neoplasms 0.030 1.000 3 2012 2015
dbSNP: rs4444903
rs4444903
0.707 0.179 4 109912954 5 prime UTR variant A/G snp 0.50
CUI: C1623038
Disease: Cirrhosis
Cirrhosis
Pathological Conditions, Signs and Symptoms 0.030 1.000 3 2012 2015
dbSNP: rs4444903
rs4444903
0.707 0.179 4 109912954 5 prime UTR variant A/G snp 0.50
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
Digestive System Diseases 0.030 1.000 3 2012 2015
dbSNP: rs4444903
rs4444903
0.707 0.179 4 109912954 5 prime UTR variant A/G snp 0.50
CUI: C0524910
Disease: Hepatitis C, Chronic
Hepatitis C, Chronic
Digestive System Diseases; Virus Diseases 0.020 1.000 2 2012 2015
dbSNP: rs767243178
rs767243178
0.923 0.107 4 109960867 None A/G snp 4.0E-06
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot
Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.020 1.000 2 2001 2009
dbSNP: rs11568943
rs11568943
0.878 0.071 4 109961965 missense variant G/A snp 9.8E-02 0.13
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2013 2013
dbSNP: rs11568943
rs11568943
0.878 0.071 4 109961965 missense variant G/A snp 9.8E-02 0.13
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2013 2013
dbSNP: rs11568943
rs11568943
0.878 0.071 4 109961965 missense variant G/A snp 9.8E-02 0.13
CUI: C3888194
Disease: MIXED LINEAGE LEUKEMIA
MIXED LINEAGE LEUKEMIA
0.010 1.000 1 2013 2013
dbSNP: rs11568953
rs11568953
1.000 0.036 4 109963240 synonymous variant A/G snp 9.7E-03 1.1E-02
CUI: C0025202
Disease: melanoma
melanoma
Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs1226967393
rs1226967393
1.000 4 109969119 None G/A,C snp 4.0E-06 3.2E-05
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
0.010 1.000 1 2017 2017
dbSNP: rs1226967393
rs1226967393
1.000 4 109969119 None G/A,C snp 4.0E-06 3.2E-05
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs2298991
rs2298991
1.000 0.036 4 109970856 intron variant T/A,G snp 0.55
Respiratory Distress Syndrome, Adult
Respiratory Tract Diseases 0.010 1.000 1 2009 2009
dbSNP: rs4444903
rs4444903
0.707 0.179 4 109912954 5 prime UTR variant A/G snp 0.50
CUI: C0276623
Disease: Chronic viral hepatitis
Chronic viral hepatitis
0.010 1.000 1 2012 2012
dbSNP: rs4444903
rs4444903
0.707 0.179 4 109912954 5 prime UTR variant A/G snp 0.50
CUI: C0019163
Disease: Hepatitis B
Hepatitis B
Digestive System Diseases; Virus Diseases 0.010 1.000 1 2012 2012
dbSNP: rs4444903
rs4444903
0.707 0.179 4 109912954 5 prime UTR variant A/G snp 0.50
CUI: C0345904
Disease: Malignant neoplasm of liver
Malignant neoplasm of liver
Digestive System Diseases; Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs4444903
rs4444903
0.707 0.179 4 109912954 5 prime UTR variant A/G snp 0.50
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
Digestive System Diseases; Neoplasms 0.010 1.000 1 2005 2005
dbSNP: rs4444903
rs4444903
0.707 0.179 4 109912954 5 prime UTR variant A/G snp 0.50
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
Neoplasms; Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2013 2013
dbSNP: rs4444903
rs4444903
0.707 0.179 4 109912954 5 prime UTR variant A/G snp 0.50
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver
Digestive System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs4444903
rs4444903
0.707 0.179 4 109912954 5 prime UTR variant A/G snp 0.50
Liver and Intrahepatic Biliary Tract Carcinoma
0.010 1.000 1 2012 2012
dbSNP: rs4444903
rs4444903
0.707 0.179 4 109912954 5 prime UTR variant A/G snp 0.50
CUI: C3665419
Disease: intracranial glioma
intracranial glioma
0.010 1.000 1 2010 2010