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: rs1413711
rs1413711
VEGFA
0.882 0.200 6 43772941 intron variant T/A;C snv
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.040 1.000 4 2012 2014
dbSNP: rs1413711
rs1413711
VEGFA
0.882 0.200 6 43772941 intron variant T/A;C snv
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.010 1.000 1 2013 2013
dbSNP: rs1413711
rs1413711
VEGFA
0.882 0.200 6 43772941 intron variant T/A;C snv
CUI: C1860224
Disease: ABLEPHARON-MACROSTOMIA SYNDROME
ABLEPHARON-MACROSTOMIA SYNDROME 		0.010 1.000 1 2011 2011
dbSNP: rs1222213359
rs1222213359
VEGFA
0.574 0.720 6 43770966 missense variant G/A snv
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.040 1.000 4 2005 2018
dbSNP: rs1222213359
rs1222213359
VEGFA
0.574 0.720 6 43770966 missense variant G/A snv
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		0.030 1.000 3 2007 2017
dbSNP: rs1222213359
rs1222213359
VEGFA
0.574 0.720 6 43770966 missense variant G/A snv
CUI: C0014175
Disease: Endometriosis
Endometriosis 		0.030 1.000 3 2009 2017
dbSNP: rs1222213359
rs1222213359
VEGFA
0.574 0.720 6 43770966 missense variant G/A snv
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		0.030 1.000 3 2008 2012
dbSNP: rs1222213359
rs1222213359
VEGFA
0.574 0.720 6 43770966 missense variant G/A snv
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		0.030 1.000 3 2007 2017
dbSNP: rs1222213359
rs1222213359
VEGFA
0.574 0.720 6 43770966 missense variant G/A snv
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5 		0.030 1.000 3 2008 2012
dbSNP: rs1443465532
rs1443465532
VEGFA
0.882 0.080 6 43774362 missense variant G/C snv 4.0E-06 7.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.030 1.000 3 2002 2011
dbSNP: rs1201894677
rs1201894677
VEGFA
6 43770833 missense variant G/A snv 1.6E-05
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.020 1.000 2 2015 2015
dbSNP: rs1222213359
rs1222213359
VEGFA
0.574 0.720 6 43770966 missense variant G/A snv
CUI: C0017658
Disease: Glomerulonephritis
Glomerulonephritis 		0.020 1.000 2 2011 2014
dbSNP: rs1222213359
rs1222213359
VEGFA
0.574 0.720 6 43770966 missense variant G/A snv
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		0.020 < 0.001 2 2016 2019
dbSNP: rs1222213359
rs1222213359
VEGFA
0.574 0.720 6 43770966 missense variant G/A snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 0.500 2 2011 2014
dbSNP: rs1222213359
rs1222213359
VEGFA
0.574 0.720 6 43770966 missense variant G/A snv
CUI: C0033860
Disease: Psoriasis
Psoriasis 		0.020 1.000 2 2014 2015
dbSNP: rs1222213359
rs1222213359
VEGFA
0.574 0.720 6 43770966 missense variant G/A snv
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		0.020 0.500 2 2010 2017
dbSNP: rs1222213359
rs1222213359
VEGFA
0.574 0.720 6 43770966 missense variant G/A snv
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.020 1.000 2 2013 2015
dbSNP: rs1222213359
rs1222213359
VEGFA
0.574 0.720 6 43770966 missense variant G/A snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.020 0.500 2 2011 2014
dbSNP: rs1222213359
rs1222213359
VEGFA
0.574 0.720 6 43770966 missense variant G/A snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.020 0.500 2 2010 2013
dbSNP: rs1188254133
rs1188254133
VEGFA
0.851 0.240 6 43781990 missense variant T/G snv 7.0E-06
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.010 1.000 1 2002 2002
dbSNP: rs1188254133
rs1188254133
VEGFA
0.851 0.240 6 43781990 missense variant T/G snv 7.0E-06
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.010 1.000 1 2016 2016
dbSNP: rs1188254133
rs1188254133
VEGFA
0.851 0.240 6 43781990 missense variant T/G snv 7.0E-06
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		0.010 1.000 1 2002 2002
dbSNP: rs1188254133
rs1188254133
VEGFA
0.851 0.240 6 43781990 missense variant T/G snv 7.0E-06
CUI: C4551683
Disease: Adrenal Gland Pheochromocytoma
Adrenal Gland Pheochromocytoma 		0.010 1.000 1 2002 2002
dbSNP: rs1212415280
rs1212415280
VEGFA
6 43771130 missense variant G/T snv 2.1E-05
CUI: C0085281
Disease: Addictive Behavior
Addictive Behavior 		0.010 1.000 1 2019 2019
dbSNP: rs1212415280
rs1212415280
VEGFA
6 43771130 missense variant G/T snv 2.1E-05
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.010 1.000 1 2012 2012