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: rs751772105
rs751772105 		11 17387362 missense variant C/A;T snv 4.0E-05
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2009 2009
dbSNP: rs587783670
rs587783670 		11 17387571 missense variant G/C;T snv
CUI: C3278636
Disease: Neonatal insulin-dependent diabetes mellitus
Neonatal insulin-dependent diabetes mellitus 		0.700 0
dbSNP: rs587783671
rs587783671 		11 17387556 missense variant T/G snv
CUI: C3278636
Disease: Neonatal insulin-dependent diabetes mellitus
Neonatal insulin-dependent diabetes mellitus 		0.700 0
dbSNP: rs587783674
rs587783674 		11 17388084 missense variant G/C snv
CUI: C3278636
Disease: Neonatal insulin-dependent diabetes mellitus
Neonatal insulin-dependent diabetes mellitus 		0.700 0
dbSNP: rs587783675
rs587783675 		11 17387104 missense variant A/G snv
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs5219
rs5219 		0.701 0.360 11 17388025 stop gained T/A;C snv 0.64
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.900 0.906 64 1998 2019
dbSNP: rs5219
rs5219 		0.701 0.360 11 17388025 stop gained T/A;C snv 0.64
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.100 0.842 19 2003 2019
dbSNP: rs5219
rs5219 		0.701 0.360 11 17388025 stop gained T/A;C snv 0.64
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.100 0.882 17 2003 2019
dbSNP: rs5219
rs5219 		0.701 0.360 11 17388025 stop gained T/A;C snv 0.64
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia 		Nutritional and Metabolic Diseases 0.040 0.500 4 2005 2019
dbSNP: rs5219
rs5219 		0.701 0.360 11 17388025 stop gained T/A;C snv 0.64
CUI: C0085207
Disease: Gestational Diabetes
Gestational Diabetes 		Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.040 0.750 4 2005 2013
dbSNP: rs5219
rs5219 		0.701 0.360 11 17388025 stop gained T/A;C snv 0.64
CUI: C0271650
Disease: Impaired glucose tolerance
Impaired glucose tolerance 		Nutritional and Metabolic Diseases 0.030 1.000 3 2004 2009
dbSNP: rs5219
rs5219 		0.701 0.360 11 17388025 stop gained T/A;C snv 0.64
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.030 0.667 3 2004 2012
dbSNP: rs5219
rs5219 		0.701 0.360 11 17388025 stop gained T/A;C snv 0.64
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.020 < 0.001 2 2007 2008
dbSNP: rs5219
rs5219 		0.701 0.360 11 17388025 stop gained T/A;C snv 0.64
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.020 0.500 2 2014 2015
dbSNP: rs5219
rs5219 		0.701 0.360 11 17388025 stop gained T/A;C snv 0.64
CUI: C0362046
Disease: Prediabetes syndrome
Prediabetes syndrome 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.020 1.000 2 2011 2018
dbSNP: rs5219
rs5219 		0.701 0.360 11 17388025 stop gained T/A;C snv 0.64
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		Cardiovascular Diseases 0.020 1.000 2 2017 2019
dbSNP: rs5219
rs5219 		0.701 0.360 11 17388025 stop gained T/A;C snv 0.64
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs5219
rs5219 		0.701 0.360 11 17388025 stop gained T/A;C snv 0.64
CUI: C0428886
Disease: Mean blood pressure
Mean blood pressure 		0.700 1.000 1 2016 2016
dbSNP: rs5219
rs5219 		0.701 0.360 11 17388025 stop gained T/A;C snv 0.64
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs5219
rs5219 		0.701 0.360 11 17388025 stop gained T/A;C snv 0.64
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2016 2016
dbSNP: rs5219
rs5219 		0.701 0.360 11 17388025 stop gained T/A;C snv 0.64
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs5219
rs5219 		0.701 0.360 11 17388025 stop gained T/A;C snv 0.64
CUI: C0271680
Disease: Diabetic Polyneuropathies
Diabetic Polyneuropathies 		Nervous System Diseases; Endocrine System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs5219
rs5219 		0.701 0.360 11 17388025 stop gained T/A;C snv 0.64
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2018 2018
dbSNP: rs5219
rs5219 		0.701 0.360 11 17388025 stop gained T/A;C snv 0.64
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		Cardiovascular Diseases 0.010 1.000 1 2009 2009
dbSNP: rs5219
rs5219 		0.701 0.360 11 17388025 stop gained T/A;C snv 0.64
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2015 2015