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: rs4362633
rs4362633 		20 17464490 non coding transcript exon variant A/C snv 0.10
CUI: C0162701
Disease: Polysomnography
Polysomnography 		0.700 1.000 1 2012 2012
dbSNP: rs6044834
rs6044834 		20 17455828 intron variant T/G snv 0.15
CUI: C0162701
Disease: Polysomnography
Polysomnography 		0.700 1.000 1 2012 2012
dbSNP: rs6136033
rs6136033 		20 17227859 intron variant A/C snv 0.56
CUI: C1314691
Disease: Age at menarche
Age at menarche 		Behavior and Behavior Mechanisms 0.700 1.000 1 2019 2019
dbSNP: rs780820865
rs780820865 		1.000 0.080 20 17465393 missense variant G/A;C snv 4.0E-06; 4.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs2021785
rs2021785 		1.000 0.080 20 17441418 intron variant T/A;C snv
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.020 1.000 2 2007 2012
dbSNP: rs16999051
rs16999051 		0.882 0.280 20 17380837 intron variant C/T snv 0.13
CUI: C0730285
Disease: Diabetic macular edema
Diabetic macular edema 		Eye Diseases; Endocrine System Diseases; Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs16999051
rs16999051 		0.882 0.280 20 17380837 intron variant C/T snv 0.13
CUI: C0011884
Disease: Diabetic Retinopathy
Diabetic Retinopathy 		Eye Diseases; Endocrine System Diseases; Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs16999051
rs16999051 		0.882 0.280 20 17380837 intron variant C/T snv 0.13
CUI: C1845050
Disease: PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS
PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 2018 2018
dbSNP: rs200711626
rs200711626 		0.925 0.080 20 17465411 missense variant C/T snv 8.8E-05 3.6E-04
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs200711626
rs200711626 		0.925 0.080 20 17465411 missense variant C/T snv 8.8E-05 3.6E-04
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs200711626
rs200711626 		0.925 0.080 20 17465411 missense variant C/T snv 8.8E-05 3.6E-04
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 2017 2017
dbSNP: rs2208203
rs2208203 		1.000 0.080 20 17343358 intron variant C/G;T snv
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 2012 2012
dbSNP: rs2269023
rs2269023 		1.000 0.080 20 17452434 intron variant T/A;C snv
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: rs2284912
rs2284912 		1.000 0.040 20 17457568 intron variant T/C snv 1.7E-02
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs2284912
rs2284912 		1.000 0.040 20 17457568 intron variant T/C snv 1.7E-02
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs4814597
rs4814597 		1.000 0.080 20 17230988 intron variant A/G snv 0.45
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: rs6044695
rs6044695 		1.000 0.040 20 17244293 intron variant A/T snv 0.41
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs6044695
rs6044695 		1.000 0.040 20 17244293 intron variant A/T snv 0.41
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs6080699
rs6080699 		1.000 0.080 20 17453641 intron variant G/C snv 0.26
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2010 2010