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: rs2237895
rs2237895 		0.790 0.240 11 2835964 intron variant A/C;T snv
CUI: C0085207
Disease: Gestational Diabetes
Gestational Diabetes 		Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.030 0.333 3 2010 2012
dbSNP: rs2237895
rs2237895 		0.790 0.240 11 2835964 intron variant A/C;T snv
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.030 1.000 3 2011 2013
dbSNP: rs2237895
rs2237895 		0.790 0.240 11 2835964 intron variant A/C;T snv
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.030 1.000 3 2011 2013
dbSNP: rs2237895
rs2237895 		0.790 0.240 11 2835964 intron variant A/C;T snv
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: rs2237895
rs2237895 		0.790 0.240 11 2835964 intron variant A/C;T snv
CUI: C0014175
Disease: Endometriosis
Endometriosis 		Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2019 2019
dbSNP: rs2237895
rs2237895 		0.790 0.240 11 2835964 intron variant A/C;T snv
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs2237895
rs2237895 		0.790 0.240 11 2835964 intron variant A/C;T snv
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.010 < 0.001 1 2019 2019
dbSNP: rs2237895
rs2237895 		0.790 0.240 11 2835964 intron variant A/C;T snv
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.010 1.000 1 2011 2011
dbSNP: rs2237895
rs2237895 		0.790 0.240 11 2835964 intron variant A/C;T snv
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs199472728
rs199472728 		0.925 0.120 11 2572885 missense variant A/G snv 1.8E-04 1.3E-04
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 21 1996 2015
dbSNP: rs199472754
rs199472754 		1.000 0.120 11 2583477 missense variant A/G snv
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.710 1.000 21 1996 2015
dbSNP: rs199472777
rs199472777 		1.000 0.120 11 2587634 missense variant A/G snv
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 21 1996 2015
dbSNP: rs199473451
rs199473451 		0.925 0.120 11 2527971 missense variant A/G snv
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 21 1996 2015
dbSNP: rs199472732
rs199472732 		1.000 0.120 11 2572907 missense variant A/G snv
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 20 1996 2015
dbSNP: rs199472798
rs199472798 		1.000 0.120 11 2776009 missense variant A/G snv
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 20 1996 2015
dbSNP: rs199472801
rs199472801 		1.000 0.120 11 2776038 missense variant A/G snv
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 20 1996 2015
dbSNP: rs199472808
rs199472808 		1.000 0.120 11 2777005 missense variant A/G snv
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 20 1996 2015
dbSNP: rs199472812
rs199472812 		1.000 0.120 11 2777999 missense variant A/G snv
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 20 1996 2015
dbSNP: rs199473404
rs199473404 		1.000 0.120 11 2585240 missense variant A/G snv
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 20 1996 2015
dbSNP: rs231362
rs231362 		1.000 0.080 11 2670241 non coding transcript exon variant A/G snv 0.62
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.840 1.000 10 2010 2019
dbSNP: rs12720458
rs12720458 		0.716 0.240 11 2585264 missense variant A/G snv 4.0E-05 1.4E-05
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 8 2005 2016
dbSNP: rs120074192
rs120074192 		0.763 0.120 11 2527959 missense variant A/G snv
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.050 1.000 5 2003 2018
dbSNP: rs120074192
rs120074192 		0.763 0.120 11 2527959 missense variant A/G snv
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.030 1.000 3 2007 2014
dbSNP: rs199473451
rs199473451 		0.925 0.120 11 2527971 missense variant A/G snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 3 2003 2007
dbSNP: rs120074192
rs120074192 		0.763 0.120 11 2527959 missense variant A/G snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.020 1.000 2 2003 2004