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: rs1323833193
rs1323833193
EGF
0.851 0.160 4 109994859 missense variant C/G snv 4.0E-06
CUI: C1389018
Disease: Atrioventricular Septal Defect
Atrioventricular Septal Defect 		0.010 1.000 1 2018 2018
dbSNP: rs1323833193
rs1323833193
EGF
0.851 0.160 4 109994859 missense variant C/G snv 4.0E-06
CUI: C1389016
Disease: ATRIOVENTRICULAR CANAL DEFECT
ATRIOVENTRICULAR CANAL DEFECT 		0.010 1.000 1 2018 2018
dbSNP: rs1336242054
rs1336242054
EGF
1.000 0.080 4 109974747 missense variant A/G snv 4.0E-06
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.010 1.000 1 2015 2015
dbSNP: rs1436919825
rs1436919825
EGF
0.882 0.080 4 109976175 missense variant G/A snv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2009 2009
dbSNP: rs1436919825
rs1436919825
EGF
0.882 0.080 4 109976175 missense variant G/A snv
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.010 1.000 1 2009 2009
dbSNP: rs1436919825
rs1436919825
EGF
0.882 0.080 4 109976175 missense variant G/A snv
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.010 1.000 1 2009 2009
dbSNP: rs2237051
rs2237051
EGF
0.925 0.120 4 109980042 missense variant G/A snv 0.46 0.53
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.010 1.000 1 2014 2014
dbSNP: rs2237051
rs2237051
EGF
0.925 0.120 4 109980042 missense variant G/A snv 0.46 0.53
CUI: C0033860
Disease: Psoriasis
Psoriasis 		0.010 1.000 1 2018 2018
dbSNP: rs2237051
rs2237051
EGF
0.925 0.120 4 109980042 missense variant G/A snv 0.46 0.53
CUI: C0041834
Disease: Erythema
Erythema 		0.010 1.000 1 2018 2018
dbSNP: rs2298991
rs2298991
EGF
1.000 0.040 4 109970856 intron variant T/A;G snv
CUI: C0035222
Disease: Respiratory Distress Syndrome, Adult
Respiratory Distress Syndrome, Adult 		0.010 1.000 1 2009 2009
dbSNP: rs3756261
rs3756261
EGF
0.925 0.160 4 109911150 upstream gene variant T/C snv 9.9E-02
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.010 < 0.001 1 2014 2014
dbSNP: rs3756261
rs3756261
EGF
0.925 0.160 4 109911150 upstream gene variant T/C snv 9.9E-02
CUI: C0013537
Disease: Eclampsia
Eclampsia 		0.010 1.000 1 2014 2014
dbSNP: rs4444903
rs4444903
EGF
0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		0.010 1.000 1 2005 2005
dbSNP: rs4444903
rs4444903
EGF
0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		0.010 1.000 1 2012 2012
dbSNP: rs4444903
rs4444903
EGF
0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51
CUI: C0235782
Disease: Gallbladder Carcinoma
Gallbladder Carcinoma 		0.010 1.000 1 2008 2008
dbSNP: rs4444903
rs4444903
EGF
0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51
CUI: C4525300
Disease: Stage IIA Gallbladder Cancer AJCC v8
Stage IIA Gallbladder Cancer AJCC v8 		0.010 1.000 1 2008 2008
dbSNP: rs4444903
rs4444903
EGF
0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51
CUI: C3665419
Disease: intracranial glioma
intracranial glioma 		0.010 1.000 1 2010 2010
dbSNP: rs4444903
rs4444903
EGF
0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51
CUI: C0033860
Disease: Psoriasis
Psoriasis 		0.010 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: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.010 1.000 1 2014 2014
dbSNP: rs4444903
rs4444903
EGF
0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51
CUI: C0685938
Disease: Malignant neoplasm of gastrointestinal tract
Malignant neoplasm of gastrointestinal tract 		0.010 1.000 1 2013 2013
dbSNP: rs4444903
rs4444903
EGF
0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51
CUI: C0524910
Disease: Hepatitis C, Chronic
Hepatitis C, Chronic 		0.010 1.000 1 2012 2012
dbSNP: rs4444903
rs4444903
EGF
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
EGF
0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51
CUI: C4525301
Disease: Stage IIB Gallbladder Cancer AJCC v8
Stage IIB Gallbladder Cancer AJCC v8 		0.010 1.000 1 2008 2008
dbSNP: rs4444903
rs4444903
EGF
0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.010 1.000 1 2005 2005
dbSNP: rs4444903
rs4444903
EGF
0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		0.010 1.000 1 2010 2010