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
Malignant neoplasm of colon and/or rectum
0.020 0.500 2 2012 2019
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: 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: 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: 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
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: 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
Stage III Gallbladder Cancer AJCC v8
0.010 1.000 1 2008 2008
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: 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: 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: 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: C0020538
Disease: Hypertensive disease
Hypertensive disease
Cardiovascular Diseases 0.010 1.000 1 2014 2014
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: rs771293553
rs771293553
1.000 0.120 4 109913378 missense variant T/A;C snv
CUI: C0015923
Disease: Fetal Alcohol Syndrome
Fetal Alcohol Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Chemically-Induced Disorders 0.010 1.000 1 2007 2007
dbSNP: rs887183646
rs887183646
1.000 0.080 4 109976079 missense variant C/T snv 3.2E-05 2.8E-05
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2007 2007
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: rs781754383
rs781754383
0.882 0.080 4 109960942 missense variant C/A;T snv 8.0E-06; 4.0E-06
CUI: C0026760
Disease: Multiple Epiphyseal Dysplasia
Multiple Epiphyseal Dysplasia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2015 2015
dbSNP: rs781754383
rs781754383
0.882 0.080 4 109960942 missense variant C/A;T snv 8.0E-06; 4.0E-06
CUI: C0432211
Disease: Spondyloepimetaphyseal disorder
Spondyloepimetaphyseal disorder
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2015 2015
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: rs1185124983
rs1185124983
1.000 0.080 4 109960879 missense variant G/A snv 4.0E-06
Familial hypercholesterolemia - homozygous
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2000 2000