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: C1860224
Disease: ABLEPHARON-MACROSTOMIA SYNDROME
ABLEPHARON-MACROSTOMIA SYNDROME 		0.010 1.000 1 2011 2011
dbSNP: rs3025000
rs3025000
VEGFA
1.000 0.120 6 43778432 non coding transcript exon variant C/T snv 0.29 0.23
CUI: C1860224
Disease: ABLEPHARON-MACROSTOMIA SYNDROME
ABLEPHARON-MACROSTOMIA SYNDROME 		0.010 1.000 1 2011 2011
dbSNP: rs3025039
rs3025039
VEGFA
0.576 0.720 6 43784799 3 prime UTR variant C/T snv 0.13
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: C1860224
Disease: ABLEPHARON-MACROSTOMIA SYNDROME
ABLEPHARON-MACROSTOMIA SYNDROME 		0.010 1.000 1 2011 2011
dbSNP: rs3025030
rs3025030
VEGFA
0.882 0.200 6 43782850 non coding transcript exon variant G/C snv 0.13
CUI: C0238284
Disease: Acute mountain sickness
Acute mountain sickness 		0.010 1.000 1 2012 2012
dbSNP: rs3025039
rs3025039
VEGFA
0.576 0.720 6 43784799 3 prime UTR variant C/T snv 0.13
CUI: C0238284
Disease: Acute mountain sickness
Acute mountain sickness 		0.010 1.000 1 2012 2012
dbSNP: rs2010963
rs2010963
VEGFA
0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68
CUI: C0155626
Disease: Acute myocardial infarction
Acute myocardial infarction 		0.010 1.000 1 2009 2009
dbSNP: rs3025039
rs3025039
VEGFA
0.576 0.720 6 43784799 3 prime UTR variant C/T snv 0.13
CUI: C0155626
Disease: Acute myocardial infarction
Acute myocardial infarction 		0.010 1.000 1 2009 2009
dbSNP: rs699947
rs699947
VEGFA
0.570 0.680 6 43768652 upstream gene variant A/C;T snv
CUI: C0155626
Disease: Acute myocardial infarction
Acute myocardial infarction 		0.010 1.000 1 2009 2009
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: rs1443465532
rs1443465532
VEGFA
0.882 0.080 6 43774362 missense variant G/C snv 4.0E-06 7.0E-06
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.010 1.000 1 2002 2002
dbSNP: rs833061
rs833061
VEGFA
0.605 0.600 6 43769749 upstream gene variant C/G;T snv
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.010 1.000 1 2016 2016
dbSNP: rs1222213359
rs1222213359
VEGFA
0.574 0.720 6 43770966 missense variant G/A snv
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		0.010 1.000 1 2004 2004
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: rs1284410244
rs1284410244
VEGFA
0.925 0.040 6 43778482 missense variant A/G snv 7.0E-06
CUI: C0278595
Disease: Adult Fibrosarcoma
Adult Fibrosarcoma 		0.010 1.000 1 2004 2004
dbSNP: rs1005230
rs1005230
VEGFA
0.827 0.040 6 43768759 upstream gene variant T/C snv 0.60
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		0.010 1.000 1 2018 2018
dbSNP: rs2010963
rs2010963
VEGFA
0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		0.010 1.000 1 2018 2018
dbSNP: rs3024994
rs3024994
VEGFA
0.776 0.120 6 43775770 non coding transcript exon variant C/T snv 3.8E-02
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		0.010 1.000 1 2018 2018
dbSNP: rs833061
rs833061
VEGFA
0.605 0.600 6 43769749 upstream gene variant C/G;T snv
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		0.010 1.000 1 2018 2018
dbSNP: rs1287276985
rs1287276985
VEGFA
0.790 0.200 6 43782020 missense variant T/A;C snv 4.0E-06; 4.0E-06 7.0E-06
CUI: C3896961
Disease: Adult Pre-B Acute Lymphoblastic Leukemia
Adult Pre-B Acute Lymphoblastic Leukemia 		0.010 1.000 1 2003 2003
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
dbSNP: rs2010963
rs2010963
VEGFA
0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.050 0.800 5 2009 2019
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: rs3025039
rs3025039
VEGFA
0.576 0.720 6 43784799 3 prime UTR variant C/T snv 0.13
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.030 1.000 3 2013 2016
dbSNP: rs2146323
rs2146323
VEGFA
0.752 0.480 6 43777358 non coding transcript exon variant C/A snv 0.31
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.020 < 0.001 2 2010 2016