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: rs914956206
rs914956206
VEGFA
0.882 0.080 6 43770762 missense variant G/A;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2015 2015
dbSNP: rs914956206
rs914956206
VEGFA
0.882 0.080 6 43770762 missense variant G/A;T snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2015 2015
dbSNP: rs914956206
rs914956206
VEGFA
0.882 0.080 6 43770762 missense variant G/A;T snv
CUI: C4049272
Disease: Tumour budding
Tumour budding 		0.010 1.000 1 2015 2015
dbSNP: rs914956206
rs914956206
VEGFA
0.882 0.080 6 43770762 missense variant G/A;T snv
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2015 2015
dbSNP: rs833070
rs833070
VEGFA
0.776 0.440 6 43774889 non coding transcript exon variant T/C snv 0.58
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.020 1.000 2 2011 2016
dbSNP: rs833070
rs833070
VEGFA
0.776 0.440 6 43774889 non coding transcript exon variant T/C snv 0.58
CUI: C0018935
Disease: Hematocrit procedure
Hematocrit procedure 		0.700 1.000 1 2016 2016
dbSNP: rs833070
rs833070
VEGFA
0.776 0.440 6 43774889 non coding transcript exon variant T/C snv 0.58
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma 		0.010 1.000 1 2015 2015
dbSNP: rs833070
rs833070
VEGFA
0.776 0.440 6 43774889 non coding transcript exon variant T/C snv 0.58
CUI: C1860224
Disease: ABLEPHARON-MACROSTOMIA SYNDROME
ABLEPHARON-MACROSTOMIA SYNDROME 		0.010 1.000 1 2011 2011
dbSNP: rs833070
rs833070
VEGFA
0.776 0.440 6 43774889 non coding transcript exon variant T/C snv 0.58
CUI: C0018023
Disease: Nodular Goiter
Nodular Goiter 		0.010 1.000 1 2017 2017
dbSNP: rs833070
rs833070
VEGFA
0.776 0.440 6 43774889 non coding transcript exon variant T/C snv 0.58
CUI: C4048328
Disease: cervical cancer
cervical cancer 		0.010 1.000 1 2015 2015
dbSNP: rs833070
rs833070
VEGFA
0.776 0.440 6 43774889 non coding transcript exon variant T/C snv 0.58
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 1.000 1 2018 2018
dbSNP: rs833070
rs833070
VEGFA
0.776 0.440 6 43774889 non coding transcript exon variant T/C snv 0.58
CUI: C0518015
Disease: Hemoglobin measurement
Hemoglobin measurement 		0.700 1.000 1 2016 2016
dbSNP: rs833070
rs833070
VEGFA
0.776 0.440 6 43774889 non coding transcript exon variant T/C snv 0.58
CUI: C0007847
Disease: Malignant tumor of cervix
Malignant tumor of cervix 		0.010 1.000 1 2015 2015
dbSNP: rs833070
rs833070
VEGFA
0.776 0.440 6 43774889 non coding transcript exon variant T/C snv 0.58
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2016 2016
dbSNP: rs833070
rs833070
VEGFA
0.776 0.440 6 43774889 non coding transcript exon variant T/C snv 0.58
CUI: C0730278
Disease: Severe nonproliferative diabetic retinopathy
Severe nonproliferative diabetic retinopathy 		0.010 1.000 1 2009 2009
dbSNP: rs833069
rs833069
VEGFA
0.851 0.200 6 43774842 non coding transcript exon variant T/C;G snv
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.020 1.000 2 2010 2015
dbSNP: rs833069
rs833069
VEGFA
0.851 0.200 6 43774842 non coding transcript exon variant T/C;G snv
CUI: C1504336
Disease: Polypoidal choroidal vasculopathy
Polypoidal choroidal vasculopathy 		0.020 1.000 2 2012 2015
dbSNP: rs833069
rs833069
VEGFA
0.851 0.200 6 43774842 non coding transcript exon variant T/C;G snv
CUI: C0011884
Disease: Diabetic Retinopathy
Diabetic Retinopathy 		0.020 1.000 2 2011 2018
dbSNP: rs833069
rs833069
VEGFA
0.851 0.200 6 43774842 non coding transcript exon variant T/C;G snv
CUI: C0004096
Disease: Asthma
Asthma 		0.010 1.000 1 2019 2019
dbSNP: rs833069
rs833069
VEGFA
0.851 0.200 6 43774842 non coding transcript exon variant T/C;G snv
CUI: C0085207
Disease: Gestational Diabetes
Gestational Diabetes 		0.010 1.000 1 2019 2019
dbSNP: rs833068
rs833068
VEGFA
0.851 0.120 6 43774790 non coding transcript exon variant G/A snv 0.36
CUI: C0007847
Disease: Malignant tumor of cervix
Malignant tumor of cervix 		0.010 1.000 1 2015 2015
dbSNP: rs833068
rs833068
VEGFA
0.851 0.120 6 43774790 non coding transcript exon variant G/A snv 0.36
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.010 1.000 1 2019 2019
dbSNP: rs833068
rs833068
VEGFA
0.851 0.120 6 43774790 non coding transcript exon variant G/A snv 0.36
CUI: C4048328
Disease: cervical cancer
cervical cancer 		0.010 1.000 1 2015 2015
dbSNP: rs833068
rs833068
VEGFA
0.851 0.120 6 43774790 non coding transcript exon variant G/A snv 0.36
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma 		0.010 1.000 1 2015 2015
dbSNP: rs833061
rs833061
VEGFA
0.605 0.600 6 43769749 upstream gene variant C/G;T snv
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.060 0.833 6 2009 2019