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: rs2297508
rs2297508 		0.790 0.240 17 17812003 synonymous variant C/G;T snv 0.50; 7.5E-05
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 1.000 1 2011 2011
dbSNP: rs2297508
rs2297508 		0.790 0.240 17 17812003 synonymous variant C/G;T snv 0.50; 7.5E-05
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2014 2014
dbSNP: rs2297508
rs2297508 		0.790 0.240 17 17812003 synonymous variant C/G;T snv 0.50; 7.5E-05
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2011 2011
dbSNP: rs4925115
rs4925115 		1.000 0.080 17 17818143 non coding transcript exon variant A/G snv 0.71
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs56061659
rs56061659 		1.000 0.040 17 17820149 missense variant G/A snv 2.4E-05 1.4E-05
CUI: C0007120
Disease: Bronchioloalveolar Adenocarcinoma
Bronchioloalveolar Adenocarcinoma 		Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs7214136
rs7214136 		0.882 0.120 17 17816675 missense variant C/T snv 6.4E-03 1.9E-02
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 2009 2009
dbSNP: rs7214136
rs7214136 		0.882 0.120 17 17816675 missense variant C/T snv 6.4E-03 1.9E-02
CUI: C0022638
Disease: Ketosis
Ketosis 		Nutritional and Metabolic Diseases 0.010 1.000 1 2009 2009
dbSNP: rs7214136
rs7214136 		0.882 0.120 17 17816675 missense variant C/T snv 6.4E-03 1.9E-02
CUI: C3837958
Disease: Diabetes Mellitus, Ketosis-Prone
Diabetes Mellitus, Ketosis-Prone 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.010 < 0.001 1 2009 2009
dbSNP: rs770850320
rs770850320 		0.882 0.120 17 17816960 missense variant G/A snv 2.0E-05 2.8E-05
CUI: C0033300
Disease: Progeria
Progeria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2011 2011
dbSNP: rs770850320
rs770850320 		0.882 0.120 17 17816960 missense variant G/A snv 2.0E-05 2.8E-05
CUI: C1720860
Disease: Familial Partial Lipodystrophy, Type 2
Familial Partial Lipodystrophy, Type 2 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 2015 2015
dbSNP: rs770850320
rs770850320 		0.882 0.120 17 17816960 missense variant G/A snv 2.0E-05 2.8E-05
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 2015 2015
dbSNP: rs8066560
rs8066560 		0.925 0.040 17 17824729 intron variant A/G snv 0.64
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		Nutritional and Metabolic Diseases 0.010 < 0.001 1 2014 2014
dbSNP: rs8066560
rs8066560 		0.925 0.040 17 17824729 intron variant A/G snv 0.64
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs9902941
rs9902941 		1.000 0.040 17 17830446 intron variant C/T snv 0.56
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 2017 2017