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: rs769047429
rs769047429 		1.000 4 109999827 frameshift variant -/G delins 8.0E-06
CUI: C1167791
Disease: Skin toxicity
Skin toxicity 		0.010 1.000 1 2010 2010
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: 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: rs11568953
rs11568953 		1.000 0.040 4 109963240 synonymous variant A/G snv 9.7E-03 1.0E-02
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.010 1.000 1 2017 2017
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: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure) 		0.700 1.000 1 2016 2016
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: rs776728511
rs776728511 		0.925 0.040 4 109945192 missense variant A/G snv 4.0E-06
CUI: C3203670
Disease: NAT2 polymorphism
NAT2 polymorphism 		0.010 1.000 1 2012 2012
dbSNP: rs776728511
rs776728511 		0.925 0.040 4 109945192 missense variant A/G snv 4.0E-06
CUI: C0017638
Disease: Glioma
Glioma 		Neoplasms 0.010 1.000 1 2012 2012
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: rs1177684571
rs1177684571 		1.000 0.080 4 109976199 missense variant G/C;T snv 4.0E-06
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1185124983
rs1185124983 		1.000 0.080 4 109960879 missense variant G/A snv 4.0E-06
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2000 2000
dbSNP: rs1336242054
rs1336242054 		1.000 0.080 4 109974747 missense variant A/G snv 4.0E-06
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 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