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: rs10766197
rs10766197 		0.807 0.240 11 14900334 upstream gene variant G/A;C snv
CUI: C0151332
Disease: Active tuberculosis
Active tuberculosis 		Infections 0.010 1.000 1 2016 2016
dbSNP: rs2060793
rs2060793 		0.776 0.240 11 14893764 upstream gene variant A/G snv 0.63
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		Infections 0.010 1.000 1 2016 2016
dbSNP: rs2060793
rs2060793 		0.776 0.240 11 14893764 upstream gene variant A/G snv 0.63
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma 		Neoplasms; Endocrine System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs2060793
rs2060793 		0.776 0.240 11 14893764 upstream gene variant A/G snv 0.63
CUI: C0919758
Disease: Vitamin D measurement
Vitamin D measurement 		0.800 1.000 1 2010 2010
dbSNP: rs2060793
rs2060793 		0.776 0.240 11 14893764 upstream gene variant A/G snv 0.63
CUI: C0042870
Disease: Vitamin D Deficiency
Vitamin D Deficiency 		Nutritional and Metabolic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs2060793
rs2060793 		0.776 0.240 11 14893764 upstream gene variant A/G snv 0.63
CUI: C0151332
Disease: Active tuberculosis
Active tuberculosis 		Infections 0.010 1.000 1 2016 2016
dbSNP: rs2060793
rs2060793 		0.776 0.240 11 14893764 upstream gene variant A/G snv 0.63
CUI: C0007115
Disease: Malignant neoplasm of thyroid
Malignant neoplasm of thyroid 		Neoplasms; Endocrine System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs2060793
rs2060793 		0.776 0.240 11 14893764 upstream gene variant A/G snv 0.63
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		Neoplasms; Endocrine System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs2060793
rs2060793 		0.776 0.240 11 14893764 upstream gene variant A/G snv 0.63
CUI: C0523979
Disease: Vitamin D3 measurement
Vitamin D3 measurement 		0.800 1.000 1 2010 2010
dbSNP: rs2060793
rs2060793 		0.776 0.240 11 14893764 upstream gene variant A/G snv 0.63
CUI: C0008149
Disease: Chlamydia Infections
Chlamydia Infections 		Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases 0.010 1.000 1 2016 2016
dbSNP: rs2060793
rs2060793 		0.776 0.240 11 14893764 upstream gene variant A/G snv 0.63
CUI: C0035579
Disease: Rickets
Rickets 		Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.010 1.000 1 2013 2013
dbSNP: rs2060793
rs2060793 		0.776 0.240 11 14893764 upstream gene variant A/G snv 0.63
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs12794714
rs12794714 		0.708 0.360 11 14892029 synonymous variant G/A snv 0.41 0.35
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.020 0.500 2 2007 2019
dbSNP: rs12794714
rs12794714 		0.708 0.360 11 14892029 synonymous variant G/A snv 0.41 0.35
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.020 0.500 2 2014 2014
dbSNP: rs12794714
rs12794714 		0.708 0.360 11 14892029 synonymous variant G/A snv 0.41 0.35
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		Cardiovascular Diseases 0.020 1.000 2 2014 2015
dbSNP: rs12794714
rs12794714 		0.708 0.360 11 14892029 synonymous variant G/A snv 0.41 0.35
CUI: C1337013
Disease: Differentiated Thyroid Gland Carcinoma
Differentiated Thyroid Gland Carcinoma 		0.010 1.000 1 2012 2012
dbSNP: rs12794714
rs12794714 		0.708 0.360 11 14892029 synonymous variant G/A snv 0.41 0.35
CUI: C0042870
Disease: Vitamin D Deficiency
Vitamin D Deficiency 		Nutritional and Metabolic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs12794714
rs12794714 		0.708 0.360 11 14892029 synonymous variant G/A snv 0.41 0.35
CUI: C0151744
Disease: Myocardial Ischemia
Myocardial Ischemia 		Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs12794714
rs12794714 		0.708 0.360 11 14892029 synonymous variant G/A snv 0.41 0.35
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 2018 2018
dbSNP: rs12794714
rs12794714 		0.708 0.360 11 14892029 synonymous variant G/A snv 0.41 0.35
CUI: C4722172
Disease: Primary differentiated carcinoma of thyroid gland
Primary differentiated carcinoma of thyroid gland 		0.010 1.000 1 2012 2012
dbSNP: rs12794714
rs12794714 		0.708 0.360 11 14892029 synonymous variant G/A snv 0.41 0.35
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		Digestive System Diseases; Infections 0.010 1.000 1 2019 2019
dbSNP: rs12794714
rs12794714 		0.708 0.360 11 14892029 synonymous variant G/A snv 0.41 0.35
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs12794714
rs12794714 		0.708 0.360 11 14892029 synonymous variant G/A snv 0.41 0.35
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs12794714
rs12794714 		0.708 0.360 11 14892029 synonymous variant G/A snv 0.41 0.35
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma 		Neoplasms; Endocrine System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs12794714
rs12794714 		0.708 0.360 11 14892029 synonymous variant G/A snv 0.41 0.35
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 1.000 1 2014 2014