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: rs1193512118
rs1193512118 		1.000 0.080 22 46198448 missense variant C/G;T snv 4.0E-06; 4.0E-06
CUI: C0342276
Disease: Maturity onset diabetes mellitus in young
Maturity onset diabetes mellitus in young 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2001 2001
dbSNP: rs1232898090
rs1232898090 		0.637 0.600 22 46198429 missense variant G/C;T snv 4.0E-06; 4.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1232898090
rs1232898090 		0.637 0.600 22 46198429 missense variant G/C;T snv 4.0E-06; 4.0E-06
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2003 2003
dbSNP: rs1232898090
rs1232898090 		0.637 0.600 22 46198429 missense variant G/C;T snv 4.0E-06; 4.0E-06
CUI: C3714619
Disease: Insulin resistance syndrome
Insulin resistance syndrome 		Nutritional and Metabolic Diseases 0.010 1.000 1 2001 2001
dbSNP: rs1232898090
rs1232898090 		0.637 0.600 22 46198429 missense variant G/C;T snv 4.0E-06; 4.0E-06
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2005 2005
dbSNP: rs1232898090
rs1232898090 		0.637 0.600 22 46198429 missense variant G/C;T snv 4.0E-06; 4.0E-06
CUI: C0011884
Disease: Diabetic Retinopathy
Diabetic Retinopathy 		Eye Diseases; Endocrine System Diseases; Cardiovascular Diseases 0.010 < 0.001 1 2002 2002
dbSNP: rs1232898090
rs1232898090 		0.637 0.600 22 46198429 missense variant G/C;T snv 4.0E-06; 4.0E-06
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2005 2005
dbSNP: rs1232898090
rs1232898090 		0.637 0.600 22 46198429 missense variant G/C;T snv 4.0E-06; 4.0E-06
CUI: C0344315
Disease: Depressed mood
Depressed mood 		Behavior and Behavior Mechanisms 0.010 1.000 1 2009 2009
dbSNP: rs1232898090
rs1232898090 		0.637 0.600 22 46198429 missense variant G/C;T snv 4.0E-06; 4.0E-06
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1232898090
rs1232898090 		0.637 0.600 22 46198429 missense variant G/C;T snv 4.0E-06; 4.0E-06
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism 		Nutritional and Metabolic Diseases 0.010 1.000 1 2001 2001
dbSNP: rs1232898090
rs1232898090 		0.637 0.600 22 46198429 missense variant G/C;T snv 4.0E-06; 4.0E-06
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2009 2009
dbSNP: rs1232898090
rs1232898090 		0.637 0.600 22 46198429 missense variant G/C;T snv 4.0E-06; 4.0E-06
CUI: C0342257
Disease: Complications of Diabetes Mellitus
Complications of Diabetes Mellitus 		Endocrine System Diseases 0.010 < 0.001 1 2006 2006
dbSNP: rs1232898090
rs1232898090 		0.637 0.600 22 46198429 missense variant G/C;T snv 4.0E-06; 4.0E-06
CUI: C0007785
Disease: Cerebral Infarction
Cerebral Infarction 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases 0.010 < 0.001 1 2016 2016
dbSNP: rs1232898090
rs1232898090 		0.637 0.600 22 46198429 missense variant G/C;T snv 4.0E-06; 4.0E-06
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2003 2003
dbSNP: rs1232898090
rs1232898090 		0.637 0.600 22 46198429 missense variant G/C;T snv 4.0E-06; 4.0E-06
CUI: C0497327
Disease: Dementia
Dementia 		Nervous System Diseases; Mental Disorders 0.010 < 0.001 1 2010 2010
dbSNP: rs1232898090
rs1232898090 		0.637 0.600 22 46198429 missense variant G/C;T snv 4.0E-06; 4.0E-06
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		Mental Disorders 0.010 1.000 1 2009 2009
dbSNP: rs1232898090
rs1232898090 		0.637 0.600 22 46198429 missense variant G/C;T snv 4.0E-06; 4.0E-06
CUI: C0011570
Disease: Mental Depression
Mental Depression 		Behavior and Behavior Mechanisms 0.010 1.000 1 2009 2009
dbSNP: rs1232898090
rs1232898090 		0.637 0.600 22 46198429 missense variant G/C;T snv 4.0E-06; 4.0E-06
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		Nervous System Diseases; Mental Disorders 0.010 < 0.001 1 2010 2010
dbSNP: rs1232898090
rs1232898090 		0.637 0.600 22 46198429 missense variant G/C;T snv 4.0E-06; 4.0E-06
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 1.000 1 2011 2011
dbSNP: rs1232898090
rs1232898090 		0.637 0.600 22 46198429 missense variant G/C;T snv 4.0E-06; 4.0E-06
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		Musculoskeletal Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1232898090
rs1232898090 		0.637 0.600 22 46198429 missense variant G/C;T snv 4.0E-06; 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1232898090
rs1232898090 		0.637 0.600 22 46198429 missense variant G/C;T snv 4.0E-06; 4.0E-06
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		Mental Disorders 0.010 1.000 1 2009 2009
dbSNP: rs1232898090
rs1232898090 		0.637 0.600 22 46198429 missense variant G/C;T snv 4.0E-06; 4.0E-06
CUI: C0014175
Disease: Endometriosis
Endometriosis 		Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2004 2004
dbSNP: rs1232898090
rs1232898090 		0.637 0.600 22 46198429 missense variant G/C;T snv 4.0E-06; 4.0E-06
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1232898090
rs1232898090 		0.637 0.600 22 46198429 missense variant G/C;T snv 4.0E-06; 4.0E-06
CUI: C0852036
Disease: Pregnancy associated hypertension
Pregnancy associated hypertension 		Female Urogenital Diseases and Pregnancy Complications; Cardiovascular Diseases 0.010 1.000 1 2010 2010