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: 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: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		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: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2017 2017
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: 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: rs1177684571
rs1177684571
EGF
1.000 0.080 4 109976199 missense variant G/C;T snv 4.0E-06
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia 		0.010 1.000 1 2019 2019
dbSNP: rs1185124983
rs1185124983
EGF
1.000 0.080 4 109960879 missense variant G/A snv 4.0E-06
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		0.010 1.000 1 2000 2000
dbSNP: rs1226967393
rs1226967393
EGF
4 109969119 missense variant G/A;C snv 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2017 2017
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: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 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: 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: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.060 1.000 6 2011 2016