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: 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: C1336527
Disease: Carcinoma of urinary bladder, superficial
Carcinoma of urinary bladder, superficial 		0.010 1.000 1 2005 2005
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: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.010 1.000 1 2005 2005
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: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		0.010 1.000 1 2005 2005
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: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		0.010 1.000 1 2005 2005
dbSNP: rs1570360
rs1570360
VEGFA
0.641 0.680 6 43770093 upstream gene variant A/G snv 0.76
CUI: C0039483
Disease: Giant Cell Arteritis
Giant Cell Arteritis 		0.010 1.000 1 2005 2005
dbSNP: rs2010963
rs2010963
VEGFA
0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68
CUI: C0039483
Disease: Giant Cell Arteritis
Giant Cell Arteritis 		0.010 1.000 1 2005 2005
dbSNP: rs748352475
rs748352475
VEGFA
0.925 0.160 6 43777546 missense variant C/G snv 1.2E-05 7.0E-06
CUI: C0011884
Disease: Diabetic Retinopathy
Diabetic Retinopathy 		0.010 < 0.001 1 2005 2005
dbSNP: rs748352475
rs748352475
VEGFA
0.925 0.160 6 43777546 missense variant C/G snv 1.2E-05 7.0E-06
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 < 0.001 1 2005 2005
dbSNP: rs752153816
rs752153816
VEGFA
0.882 0.120 6 43780848 missense variant G/A;C snv 4.0E-06; 4.0E-06; 1.2E-05; 3.6E-05
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.010 1.000 1 2005 2005
dbSNP: rs1222213359
rs1222213359
VEGFA
0.574 0.720 6 43770966 missense variant G/A snv
CUI: C0034152
Disease: Henoch-Schoenlein Purpura
Henoch-Schoenlein Purpura 		0.010 1.000 1 2006 2006
dbSNP: rs1222213359
rs1222213359
VEGFA
0.574 0.720 6 43770966 missense variant G/A snv
CUI: C0027697
Disease: Nephritis
Nephritis 		0.010 1.000 1 2006 2006
dbSNP: rs141138308
rs141138308
VEGFA
1.000 0.040 6 43780784 missense variant C/A;T snv 4.0E-06; 2.8E-05
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.010 1.000 1 2006 2006
dbSNP: rs1570360
rs1570360
VEGFA
0.641 0.680 6 43770093 upstream gene variant A/G snv 0.76
CUI: C0034152
Disease: Henoch-Schoenlein Purpura
Henoch-Schoenlein Purpura 		0.010 1.000 1 2006 2006
dbSNP: rs2010963
rs2010963
VEGFA
0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68
CUI: C0034152
Disease: Henoch-Schoenlein Purpura
Henoch-Schoenlein Purpura 		0.010 1.000 1 2006 2006
dbSNP: rs2010963
rs2010963
VEGFA
0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68
CUI: C0026691
Disease: Mucocutaneous Lymph Node Syndrome
Mucocutaneous Lymph Node Syndrome 		0.010 1.000 1 2006 2006
dbSNP: rs25648
rs25648
VEGFA
0.742 0.320 6 43771240 synonymous variant C/G;T snv 8.5E-06; 0.16
CUI: C0026691
Disease: Mucocutaneous Lymph Node Syndrome
Mucocutaneous Lymph Node Syndrome 		0.010 1.000 1 2006 2006
dbSNP: rs699947
rs699947
VEGFA
0.570 0.680 6 43768652 upstream gene variant A/C;T snv
CUI: C0026691
Disease: Mucocutaneous Lymph Node Syndrome
Mucocutaneous Lymph Node Syndrome 		0.010 1.000 1 2006 2006
dbSNP: rs752907384
rs752907384
VEGFA
0.827 0.200 6 43782077 missense variant C/G;T snv 8.0E-06
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.010 1.000 1 2006 2006
dbSNP: rs1222213359
rs1222213359
VEGFA
0.574 0.720 6 43770966 missense variant G/A snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2007 2007
dbSNP: rs3024994
rs3024994
VEGFA
0.776 0.120 6 43775770 non coding transcript exon variant C/T snv 3.8E-02
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		0.010 1.000 1 2007 2007
dbSNP: rs3024994
rs3024994
VEGFA
0.776 0.120 6 43775770 non coding transcript exon variant C/T snv 3.8E-02
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.010 1.000 1 2007 2007
dbSNP: rs3024994
rs3024994
VEGFA
0.776 0.120 6 43775770 non coding transcript exon variant C/T snv 3.8E-02
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		0.010 1.000 1 2007 2007
dbSNP: rs3024997
rs3024997
VEGFA
0.882 0.120 6 43777370 non coding transcript exon variant G/A snv 0.31
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.010 1.000 1 2007 2007
dbSNP: rs699947
rs699947
VEGFA
0.570 0.680 6 43768652 upstream gene variant A/C;T snv
CUI: C0686619
Disease: Secondary malignant neoplasm of lymph node
Secondary malignant neoplasm of lymph node 		0.010 1.000 1 2007 2007
dbSNP: rs699947
rs699947
VEGFA
0.570 0.680 6 43768652 upstream gene variant A/C;T snv
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		0.010 1.000 1 2007 2007