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: rs2010963
rs2010963
VEGFA
0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68
CUI: C2676832
Disease: MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 1(finding)
MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 1(finding) 		0.700 0
dbSNP: rs541717889
rs541717889
VEGFA
6 43770888 missense variant G/C snv 2.1E-05
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2001 2001
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: 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: rs1443465532
rs1443465532
VEGFA
0.882 0.080 6 43774362 missense variant G/C snv 4.0E-06 7.0E-06
CUI: C1510885
Disease: Angiogenic Switch
Angiogenic Switch 		0.010 1.000 1 2002 2002
dbSNP: rs1443465532
rs1443465532
VEGFA
0.882 0.080 6 43774362 missense variant G/C snv 4.0E-06 7.0E-06
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.010 1.000 1 2002 2002
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: 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: C3896960
Disease: Childhood Pre-B Acute Lymphoblastic Leukemia
Childhood Pre-B Acute Lymphoblastic Leukemia 		0.010 1.000 1 2003 2003
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: 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: C0023485
Disease: Precursor B-Cell Lymphoblastic Leukemia-Lymphoma
Precursor B-Cell Lymphoblastic Leukemia-Lymphoma 		0.010 1.000 1 2003 2003
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: rs1284410244
rs1284410244
VEGFA
0.925 0.040 6 43778482 missense variant A/G snv 7.0E-06
CUI: C0016057
Disease: Fibrosarcoma
Fibrosarcoma 		0.010 1.000 1 2004 2004
dbSNP: rs1284410244
rs1284410244
VEGFA
0.925 0.040 6 43778482 missense variant A/G snv 7.0E-06
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.010 1.000 1 2004 2004
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: rs1284410244
rs1284410244
VEGFA
0.925 0.040 6 43778482 missense variant A/G snv 7.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2004 2004
dbSNP: rs1443465532
rs1443465532
VEGFA
0.882 0.080 6 43774362 missense variant G/C snv 4.0E-06 7.0E-06
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		0.010 1.000 1 2004 2004
dbSNP: rs1443465532
rs1443465532
VEGFA
0.882 0.080 6 43774362 missense variant G/C snv 4.0E-06 7.0E-06
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.010 1.000 1 2004 2004
dbSNP: rs2010963
rs2010963
VEGFA
0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.010 1.000 1 2004 2004
dbSNP: rs752907384
rs752907384
VEGFA
0.827 0.200 6 43782077 missense variant C/G;T snv 8.0E-06
CUI: C4749274
Disease: Chuvash erythrocytosis
Chuvash erythrocytosis 		0.010 1.000 1 2004 2004
dbSNP: rs752907384
rs752907384
VEGFA
0.827 0.200 6 43782077 missense variant C/G;T snv 8.0E-06
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		0.010 1.000 1 2004 2004
dbSNP: rs752907384
rs752907384
VEGFA
0.827 0.200 6 43782077 missense variant C/G;T snv 8.0E-06
CUI: C0018916
Disease: Hemangioma
Hemangioma 		0.010 1.000 1 2004 2004
dbSNP: rs1222213359
rs1222213359
VEGFA
0.574 0.720 6 43770966 missense variant G/A snv
CUI: C0039483
Disease: Giant Cell Arteritis
Giant Cell Arteritis 		0.010 1.000 1 2005 2005
dbSNP: rs1243046808
rs1243046808
VEGFA
0.925 0.160 6 43770758 missense variant C/G;T snv 2.0E-05; 9.8E-06
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 < 0.001 1 2005 2005
dbSNP: rs1243046808
rs1243046808
VEGFA
0.925 0.160 6 43770758 missense variant C/G;T snv 2.0E-05; 9.8E-06
CUI: C0011884
Disease: Diabetic Retinopathy
Diabetic Retinopathy 		0.010 < 0.001 1 2005 2005