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: C0596263
Disease: Carcinogenesis
Carcinogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs4444903
rs4444903 		0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		Digestive System Diseases; Infections 0.010 1.000 1 2012 2012
dbSNP: rs4444903
rs4444903 		0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51
CUI: C0033860
Disease: Psoriasis
Psoriasis 		Skin and Connective Tissue Diseases 0.010 1.000 1 2018 2018
dbSNP: rs4444903
rs4444903 		0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51
CUI: C0524910
Disease: Hepatitis C, Chronic
Hepatitis C, Chronic 		Digestive System Diseases; Infections 0.010 1.000 1 2012 2012
dbSNP: rs4444903
rs4444903 		0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51
CUI: C0153452
Disease: Malignant neoplasm of gallbladder
Malignant neoplasm of gallbladder 		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: C4525305
Disease: Stage IV Gallbladder Cancer AJCC v8
Stage IV 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: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs4444903
rs4444903 		0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51
CUI: C4525301
Disease: Stage IIB Gallbladder Cancer AJCC v8
Stage IIB 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: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) 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
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 < 0.001 1 2015 2015
dbSNP: rs4444903
rs4444903 		0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51
CUI: C4525297
Disease: Stage 0 Gallbladder Cancer AJCC v8
Stage 0 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: C3665419
Disease: intracranial glioma
intracranial glioma 		Neoplasms; Nervous System 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
CUI: C4525302
Disease: Stage III Gallbladder Cancer AJCC v8
Stage III 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: C0276623
Disease: Chronic viral hepatitis
Chronic viral hepatitis 		Digestive System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs4444903
rs4444903 		0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; Neoplasms 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
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs4444903
rs4444903 		0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2005 2005
dbSNP: rs1323833193
rs1323833193 		0.851 0.160 4 109994859 missense variant C/G snv 4.0E-06
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1323833193
rs1323833193 		0.851 0.160 4 109994859 missense variant C/G snv 4.0E-06
CUI: C1389018
Disease: Atrioventricular Septal Defect
Atrioventricular Septal Defect 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1323833193
rs1323833193 		0.851 0.160 4 109994859 missense variant C/G snv 4.0E-06
CUI: C1389016
Disease: ATRIOVENTRICULAR CANAL DEFECT
ATRIOVENTRICULAR CANAL DEFECT 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1323833193
rs1323833193 		0.851 0.160 4 109994859 missense variant C/G snv 4.0E-06
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs773442580
rs773442580 		0.851 0.080 4 109913367 missense variant T/C;G snv 4.0E-06
CUI: C0004114
Disease: Astrocytoma
Astrocytoma 		Neoplasms 0.010 1.000 1 1999 1999
dbSNP: rs773442580
rs773442580 		0.851 0.080 4 109913367 missense variant T/C;G snv 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs773442580
rs773442580 		0.851 0.080 4 109913367 missense variant T/C;G snv 4.0E-06
CUI: C4086152
Disease: Childhood Astrocytoma
Childhood Astrocytoma 		Neoplasms 0.010 1.000 1 1999 1999
dbSNP: rs773442580
rs773442580 		0.851 0.080 4 109913367 missense variant T/C;G snv 4.0E-06
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2018 2018