Source: BEFREE

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: rs773442580
rs773442580
EGF
0.851 0.080 4 109913367 missense variant T/C;G snv 4.0E-06
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 1.000 1 2015 2015
dbSNP: rs773442580
rs773442580
EGF
0.851 0.080 4 109913367 missense variant T/C;G snv 4.0E-06
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		0.010 1.000 1 2014 2014
dbSNP: rs773442580
rs773442580
EGF
0.851 0.080 4 109913367 missense variant T/C;G snv 4.0E-06
CUI: C4086152
Disease: Childhood Astrocytoma
Childhood Astrocytoma 		0.010 1.000 1 1999 1999
dbSNP: rs773442580
rs773442580
EGF
0.851 0.080 4 109913367 missense variant T/C;G snv 4.0E-06
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		0.010 1.000 1 2018 2018
dbSNP: rs773442580
rs773442580
EGF
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 		0.010 1.000 1 2018 2018
dbSNP: rs773442580
rs773442580
EGF
0.851 0.080 4 109913367 missense variant T/C;G snv 4.0E-06
CUI: C0004114
Disease: Astrocytoma
Astrocytoma 		0.010 1.000 1 1999 1999
dbSNP: rs776728511
rs776728511
EGF
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
EGF
0.925 0.040 4 109945192 missense variant A/G snv 4.0E-06
CUI: C0017638
Disease: Glioma
Glioma 		0.010 1.000 1 2012 2012
dbSNP: rs778040733
rs778040733
EGF
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 		0.010 1.000 1 2016 2016
dbSNP: rs781754383
rs781754383
EGF
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 		0.010 1.000 1 2015 2015
dbSNP: rs781754383
rs781754383
EGF
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 		0.010 1.000 1 2015 2015
dbSNP: rs781754383
rs781754383
EGF
0.882 0.080 4 109960942 missense variant C/A;T snv 8.0E-06; 4.0E-06
CUI: C0263746
Disease: Osteoarthritis of the hand
Osteoarthritis of the hand 		0.010 1.000 1 2015 2015
dbSNP: rs887183646
rs887183646
EGF
1.000 0.080 4 109976079 missense variant C/T snv 3.2E-05 2.8E-05
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia 		0.010 1.000 1 2007 2007
dbSNP: rs902596253
rs902596253
EGF
1.000 0.080 4 109941062 missense variant C/T snv
CUI: C4024935
Disease: Subcortical dementia
Subcortical dementia 		0.010 1.000 1 2015 2015
dbSNP: rs11568953
rs11568953
EGF
1.000 0.040 4 109963240 synonymous variant A/G snv 9.7E-03 1.0E-02
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2017 2017
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: 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: 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: 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: 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: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		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: 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: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		0.020 1.000 2 2012 2014