Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs140422742
rs140422742 		0.882 0.120 7 99778046 missense variant T/C;G snv 7.6E-05 6.3E-05
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia 		0.010 1.000 1 2004 2004
dbSNP: rs140422742
rs140422742 		0.882 0.120 7 99778046 missense variant T/C;G snv 7.6E-05 6.3E-05
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2004 2004
dbSNP: rs140422742
rs140422742 		0.882 0.120 7 99778046 missense variant T/C;G snv 7.6E-05 6.3E-05
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2004 2004
dbSNP: rs368005287
rs368005287 		0.882 0.120 7 99762071 stop gained C/T snv 1.2E-05 7.0E-06
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia 		0.010 1.000 1 2004 2004
dbSNP: rs368005287
rs368005287 		0.882 0.120 7 99762071 stop gained C/T snv 1.2E-05 7.0E-06
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2004 2004
dbSNP: rs368005287
rs368005287 		0.882 0.120 7 99762071 stop gained C/T snv 1.2E-05 7.0E-06
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2004 2004
dbSNP: rs12721627
rs12721627 		7 99768470 missense variant G/C snv 7.6E-05 5.6E-05
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2006 2006
dbSNP: rs12721627
rs12721627 		7 99768470 missense variant G/C snv 7.6E-05 5.6E-05
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2006 2006
dbSNP: rs55951658
rs55951658 		0.827 0.200 7 99770202 missense variant T/A;C snv 4.1E-04 9.8E-05
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2007 2007
dbSNP: rs55951658
rs55951658 		0.827 0.200 7 99770202 missense variant T/A;C snv 4.1E-04 9.8E-05
CUI: C0038525
Disease: Subarachnoid Hemorrhage
Subarachnoid Hemorrhage 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2008 2008
dbSNP: rs55951658
rs55951658 		0.827 0.200 7 99770202 missense variant T/A;C snv 4.1E-04 9.8E-05
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia 		Nutritional and Metabolic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs55951658
rs55951658 		0.827 0.200 7 99770202 missense variant T/A;C snv 4.1E-04 9.8E-05
CUI: C0007785
Disease: Cerebral Infarction
Cerebral Infarction 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2008 2008
dbSNP: rs55951658
rs55951658 		0.827 0.200 7 99770202 missense variant T/A;C snv 4.1E-04 9.8E-05
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs55951658
rs55951658 		0.827 0.200 7 99770202 missense variant T/A;C snv 4.1E-04 9.8E-05
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2008 2008
dbSNP: rs55951658
rs55951658 		0.827 0.200 7 99770202 missense variant T/A;C snv 4.1E-04 9.8E-05
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs2740574
rs2740574 		0.807 0.360 7 99784473 upstream gene variant C/T snv 0.78
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2009 2009
dbSNP: rs4986910
rs4986910 		0.925 0.080 7 99760901 missense variant A/G snv 5.2E-03 5.1E-03
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2009 2009
dbSNP: rs4986910
rs4986910 		0.925 0.080 7 99760901 missense variant A/G snv 5.2E-03 5.1E-03
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2009 2009
dbSNP: rs2740574
rs2740574 		0.807 0.360 7 99784473 upstream gene variant C/T snv 0.78
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 < 0.001 1 2010 2010
dbSNP: rs2740574
rs2740574 		0.807 0.360 7 99784473 upstream gene variant C/T snv 0.78
CUI: C0565599
Disease: Maternal hypertension
Maternal hypertension 		Female Urogenital Diseases and Pregnancy Complications; Cardiovascular Diseases 0.010 < 0.001 1 2010 2010
dbSNP: rs2740574
rs2740574 		0.807 0.360 7 99784473 upstream gene variant C/T snv 0.78
CUI: C0852036
Disease: Pregnancy associated hypertension
Pregnancy associated hypertension 		Female Urogenital Diseases and Pregnancy Complications; Cardiovascular Diseases 0.010 < 0.001 1 2010 2010
dbSNP: rs775220785
rs775220785 		0.925 0.080 7 99772615 missense variant C/T snv 8.0E-06
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 < 0.001 1 2010 2010
dbSNP: rs775220785
rs775220785 		0.925 0.080 7 99772615 missense variant C/T snv 8.0E-06
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2010 2010
dbSNP: rs775220785
rs775220785 		0.925 0.080 7 99772615 missense variant C/T snv 8.0E-06
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2010 2010
dbSNP: rs775220785
rs775220785 		0.925 0.080 7 99772615 missense variant C/T snv 8.0E-06
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 < 0.001 1 2010 2010