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: 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: rs773442580
rs773442580
EGF
0.851 0.080 4 109913367 missense variant T/C;G snv 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2017 2017
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: 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: 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: 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: C0596263
Disease: Carcinogenesis
Carcinogenesis 		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
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: 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: 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: 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: rs11569017
rs11569017
EGF
0.925 0.120 4 109980955 missense variant A/T snv 7.3E-02 5.0E-02
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		0.010 1.000 1 2013 2013
dbSNP: rs11569017
rs11569017
EGF
0.925 0.120 4 109980955 missense variant A/T snv 7.3E-02 5.0E-02
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.010 1.000 1 2013 2013
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: 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: rs771293553
rs771293553
EGF
1.000 0.120 4 109913378 missense variant T/A;C snv
CUI: C0015923
Disease: Fetal Alcohol Syndrome
Fetal Alcohol Syndrome 		0.010 1.000 1 2007 2007
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: rs1323833193
rs1323833193
EGF
0.851 0.160 4 109994859 missense variant C/G snv 4.0E-06
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		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: 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: rs1323833193
rs1323833193
EGF
0.851 0.160 4 109994859 missense variant C/G snv 4.0E-06
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		0.010 1.000 1 2018 2018