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: 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: 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: 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: rs2237051
rs2237051 		0.925 0.120 4 109980042 missense variant G/A snv 0.46 0.53
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: C0033860
Disease: Psoriasis
Psoriasis 		Skin and Connective Tissue Diseases 0.010 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: rs4698803
rs4698803 		1.000 0.040 4 109993271 missense variant A/G;T snv 0.85
CUI: C0035222
Disease: Respiratory Distress Syndrome, Adult
Respiratory Distress Syndrome, Adult 		Respiratory Tract Diseases 0.010 1.000 1 2009 2009
dbSNP: rs6533485
rs6533485 		1.000 0.040 4 110006407 intron variant G/C snv 0.61
CUI: C0035222
Disease: Respiratory Distress Syndrome, Adult
Respiratory Distress Syndrome, Adult 		Respiratory Tract Diseases 0.010 1.000 1 2009 2009
dbSNP: rs7692976
rs7692976 		1.000 0.040 4 109990411 intron variant A/G;T snv
CUI: C0035222
Disease: Respiratory Distress Syndrome, Adult
Respiratory Distress Syndrome, Adult 		Respiratory Tract Diseases 0.010 1.000 1 2009 2009
dbSNP: rs2237051
rs2237051 		0.925 0.120 4 109980042 missense variant G/A snv 0.46 0.53
CUI: C0041834
Disease: Erythema
Erythema 		Pathological Conditions, Signs and Symptoms; 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: C0596263
Disease: Carcinogenesis
Carcinogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs773442580
rs773442580 		0.851 0.080 4 109913367 missense variant T/C;G snv 4.0E-06
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2015 2015
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: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.010 1.000 1 2012 2012
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: 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: rs902596253
rs902596253 		1.000 0.080 4 109941062 missense variant C/T snv
CUI: C4024935
Disease: Subcortical dementia
Subcortical dementia 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2015 2015
dbSNP: rs11568943
rs11568943 		0.925 0.080 4 109961965 missense variant G/A snv 9.8E-02 0.12
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2017 2017
dbSNP: rs11568943
rs11568943 		0.925 0.080 4 109961965 missense variant G/A snv 9.8E-02 0.12
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2017 2017
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: 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: rs778040733
rs778040733 		1.000 0.080 4 109988662 missense variant T/C snv 1.2E-05 1.4E-05
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2016 2016
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