Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs11568972
rs11568972
EGF
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
EGF
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: rs121434567
rs121434567
EGF
1.000 0.160 4 110004540 missense variant C/T snv 1.6E-05 2.8E-05
CUI: C2673648
Disease: Hypomagnesemia 4, Renal
Hypomagnesemia 4, Renal 		0.700 1.000 1 2007 2007
dbSNP: rs1860129
rs1860129
EGF
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
EGF
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
EGF
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: rs7692976
rs7692976
EGF
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: rs887027
rs887027
EGF
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
EGF
0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.060 1.000 6 2011 2016
dbSNP: rs4444903
rs4444903
EGF
0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51
CUI: C0017638
Disease: Glioma
Glioma 		0.030 1.000 3 2012 2014
dbSNP: rs4444903
rs4444903
EGF
0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		0.030 1.000 3 2012 2016
dbSNP: rs4444903
rs4444903
EGF
0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.020 0.500 2 2012 2019
dbSNP: rs4444903
rs4444903
EGF
0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51
CUI: C0025202
Disease: melanoma
melanoma 		0.020 0.500 2 2013 2015
dbSNP: rs4444903
rs4444903
EGF
0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51
CUI: C0279000
Disease: Liver and Intrahepatic Biliary Tract Carcinoma
Liver and Intrahepatic Biliary Tract Carcinoma 		0.020 1.000 2 2012 2014
dbSNP: rs4444903
rs4444903
EGF
0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51
CUI: C0220630
Disease: Adult Liver Carcinoma
Adult Liver Carcinoma 		0.020 1.000 2 2012 2014
dbSNP: rs4444903
rs4444903
EGF
0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.020 1.000 2 2009 2019
dbSNP: rs4444903
rs4444903
EGF
0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.020 1.000 2 2009 2019
dbSNP: rs4444903
rs4444903
EGF
0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51
CUI: C0345904
Disease: Malignant neoplasm of liver
Malignant neoplasm of liver 		0.020 1.000 2 2012 2014
dbSNP: rs4444903
rs4444903
EGF
0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		0.020 1.000 2 2012 2014
dbSNP: rs4444903
rs4444903
EGF
0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51
CUI: C1623038
Disease: Cirrhosis
Cirrhosis 		0.020 1.000 2 2012 2014
dbSNP: rs4444903
rs4444903
EGF
0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.020 0.500 2 2012 2019
dbSNP: rs10029654
rs10029654
EGF
1.000 0.040 4 109940771 intron variant G/A snv 0.38
CUI: C0239816
Disease: Hand eczema
Hand eczema 		0.010 1.000 1 2016 2016
dbSNP: rs11568835
rs11568835
EGF
1.000 0.120 4 109911514 upstream gene variant G/A snv 2.7E-02
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.010 1.000 1 2014 2014
dbSNP: rs11568943
rs11568943
EGF
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 		0.010 1.000 1 2017 2017
dbSNP: rs11568943
rs11568943
EGF
0.925 0.080 4 109961965 missense variant G/A snv 9.8E-02 0.12
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2017 2017