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: rs10500804
rs10500804 		0.925 0.040 11 14888727 intron variant T/G snv 0.35
CUI: C0151332
Disease: Active tuberculosis
Active tuberculosis 		Infections 0.010 1.000 1 2016 2016
dbSNP: rs10500804
rs10500804 		0.925 0.040 11 14888727 intron variant T/G snv 0.35
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		Infections 0.010 1.000 1 2016 2016
dbSNP: rs1993116
rs1993116 		0.827 0.200 11 14888688 intron variant A/G snv 0.65
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: rs1993116
rs1993116 		0.827 0.200 11 14888688 intron variant A/G snv 0.65
CUI: C0523979
Disease: Vitamin D3 measurement
Vitamin D3 measurement 		0.700 1.000 1 2010 2010
dbSNP: rs1993116
rs1993116 		0.827 0.200 11 14888688 intron variant A/G snv 0.65
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1993116
rs1993116 		0.827 0.200 11 14888688 intron variant A/G snv 0.65
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs1993116
rs1993116 		0.827 0.200 11 14888688 intron variant A/G snv 0.65
CUI: C0524910
Disease: Hepatitis C, Chronic
Hepatitis C, Chronic 		Digestive System Diseases; Infections 0.010 1.000 1 2013 2013
dbSNP: rs1993116
rs1993116 		0.827 0.200 11 14888688 intron variant A/G snv 0.65
CUI: C0042870
Disease: Vitamin D Deficiency
Vitamin D Deficiency 		Nutritional and Metabolic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1993116
rs1993116 		0.827 0.200 11 14888688 intron variant A/G snv 0.65
CUI: C0919758
Disease: Vitamin D measurement
Vitamin D measurement 		0.700 1.000 1 2010 2010
dbSNP: rs1993116
rs1993116 		0.827 0.200 11 14888688 intron variant A/G snv 0.65
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		Digestive System Diseases; Infections 0.010 1.000 1 2013 2013
dbSNP: rs7935792
rs7935792 		1.000 0.080 11 14887915 intron variant A/C snv 0.10
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs61495246
rs61495246 		0.925 0.200 11 14885847 missense variant A/G snv 2.4E-04 1.0E-03
CUI: C0035579
Disease: Rickets
Rickets 		Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.010 1.000 1 2017 2017
dbSNP: rs61495246
rs61495246 		0.925 0.200 11 14885847 missense variant A/G snv 2.4E-04 1.0E-03
CUI: C1838657
Disease: Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Vitamin D Hydroxylation-Deficient Rickets, Type 1B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases 0.800 0
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: rs117913124
rs117913124 		11 14879385 synonymous variant G/A snv 1.7E-02 1.6E-02
CUI: C0523979
Disease: Vitamin D3 measurement
Vitamin D3 measurement 		0.700 1.000 1 2018 2018
dbSNP: rs117913124
rs117913124 		11 14879385 synonymous variant G/A snv 1.7E-02 1.6E-02
CUI: C0919758
Disease: Vitamin D measurement
Vitamin D measurement 		0.700 1.000 1 2018 2018
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