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: rs1128501
rs1128501 		7 87566218 missense variant C/A snv
CUI: C1861502
Disease: COLCHICINE RESISTANCE
COLCHICINE RESISTANCE 		0.700 0
dbSNP: rs1045642
rs1045642 		0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		Neoplasms 0.020 < 0.001 2 2005 2020
dbSNP: rs1045642
rs1045642 		0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		Neoplasms 0.020 < 0.001 2 2005 2020
dbSNP: rs2032582
rs2032582 		0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02
CUI: C0041696
Disease: Unipolar Depression
Unipolar Depression 		Mental Disorders 0.020 < 0.001 2 2007 2008
dbSNP: rs1045642
rs1045642 		0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C3495917
Disease: Advanced breast cancer
Advanced breast cancer 		0.010 < 0.001 1 2012 2012
dbSNP: rs1045642
rs1045642 		0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C0020550
Disease: Hyperthyroidism
Hyperthyroidism 		Endocrine System Diseases 0.010 < 0.001 1 2008 2008
dbSNP: rs1045642
rs1045642 		0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		Neoplasms 0.010 < 0.001 1 2006 2006
dbSNP: rs1045642
rs1045642 		0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms 		Digestive System Diseases; Neoplasms 0.010 < 0.001 1 2008 2008
dbSNP: rs1045642
rs1045642 		0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C0220644
Disease: Childhood Hodgkin Lymphoma
Childhood Hodgkin Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 < 0.001 1 2011 2011
dbSNP: rs1045642
rs1045642 		0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C0406191
Disease: Pseudofolliculitis
Pseudofolliculitis 		0.010 < 0.001 1 2014 2014
dbSNP: rs1045642
rs1045642 		0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		Neoplasms 0.010 < 0.001 1 2005 2005
dbSNP: rs1045642
rs1045642 		0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C0037284
Disease: Skin lesion
Skin lesion 		Skin and Connective Tissue Diseases 0.010 < 0.001 1 2014 2014
dbSNP: rs1045642
rs1045642 		0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C0017638
Disease: Glioma
Glioma 		Neoplasms 0.010 < 0.001 1 2005 2005
dbSNP: rs1045642
rs1045642 		0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		Neoplasms 0.010 < 0.001 1 2005 2005
dbSNP: rs1045642
rs1045642 		0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C0002963
Disease: Angina Pectoris, Variant
Angina Pectoris, Variant 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 < 0.001 1 2014 2014
dbSNP: rs1045642
rs1045642 		0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.010 < 0.001 1 2017 2017
dbSNP: rs1045642
rs1045642 		0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C0220597
Disease: Adult Hodgkin Lymphoma
Adult Hodgkin Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 < 0.001 1 2011 2011
dbSNP: rs1045642
rs1045642 		0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C0019829
Disease: Hodgkin Disease
Hodgkin Disease 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 < 0.001 1 2011 2011
dbSNP: rs1045642
rs1045642 		0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C1134719
Disease: Invasive Ductal Breast Carcinoma
Invasive Ductal Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 < 0.001 1 2014 2014
dbSNP: rs1045642
rs1045642 		0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C0036337
Disease: Schizoaffective Disorder
Schizoaffective Disorder 		Mental Disorders 0.010 < 0.001 1 2010 2010
dbSNP: rs1045642
rs1045642 		0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C0014743
Disease: Erythema Nodosum
Erythema Nodosum 		Skin and Connective Tissue Diseases; Immune System Diseases; Chemically-Induced Disorders 0.010 < 0.001 1 2014 2014
dbSNP: rs1045642
rs1045642 		0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C0750384
Disease: Coumarin Resistance
Coumarin Resistance 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 < 0.001 1 2013 2013
dbSNP: rs1045642
rs1045642 		0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis 		Cardiovascular Diseases 0.010 < 0.001 1 2019 2019
dbSNP: rs1289543302
rs1289543302 		0.763 0.440 7 87536472 missense variant C/T snv
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		Neoplasms 0.010 < 0.001 1 2006 2006
dbSNP: rs1364926780
rs1364926780 		0.882 0.200 7 87550272 missense variant C/T snv
CUI: C1096063
Disease: Drug Resistant Epilepsy
Drug Resistant Epilepsy 		Nervous System Diseases 0.010 < 0.001 1 2012 2012