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: 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: 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: 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: C4525302
Disease: Stage III Gallbladder Cancer AJCC v8
Stage III 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: 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: C4525297
Disease: Stage 0 Gallbladder Cancer AJCC v8
Stage 0 Gallbladder Cancer AJCC v8 		0.010 1.000 1 2008 2008
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: 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: rs769047429
rs769047429
EGF
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: 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: 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: 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: 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: rs4698803
rs4698803
EGF
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 		0.010 1.000 1 2009 2009
dbSNP: rs6533485
rs6533485
EGF
1.000 0.040 4 110006407 intron variant G/C snv 0.61
CUI: C0035222
Disease: Respiratory Distress Syndrome, Adult
Respiratory Distress Syndrome, Adult 		0.010 1.000 1 2009 2009
dbSNP: rs7692976
rs7692976
EGF
1.000 0.040 4 109990411 intron variant A/G;T snv
CUI: C0035222
Disease: Respiratory Distress Syndrome, Adult
Respiratory Distress Syndrome, Adult 		0.010 1.000 1 2009 2009
dbSNP: rs4444903
rs4444903
EGF
0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		0.010 1.000 1 2010 2010
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: 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: 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: 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: 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: 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