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: rs506500
rs506500 		5 79118514 intron variant T/A;C snv
CUI: C0455308
Disease: Serum selenium measurement
Serum selenium measurement 		0.800 1.000 1 2013 2013
dbSNP: rs558133
rs558133 		1.000 0.120 5 79129365 intron variant C/A;T snv
CUI: C0373721
Disease: Selenium measurement
Selenium measurement 		0.700 1.000 1 2015 2015
dbSNP: rs567754
rs567754 		5 79120593 intron variant C/T snv 0.35 0.28
CUI: C0373721
Disease: Selenium measurement
Selenium measurement 		0.700 1.000 1 2015 2015
dbSNP: rs7700970
rs7700970 		5 79115501 intron variant C/T snv 0.33
CUI: C0373721
Disease: Selenium measurement
Selenium measurement 		0.700 1.000 1 2015 2015
dbSNP: rs7700970
rs7700970 		5 79115501 intron variant C/T snv 0.33
CUI: C0455308
Disease: Serum selenium measurement
Serum selenium measurement 		0.700 1.000 1 2013 2013
dbSNP: rs3733890
rs3733890 		0.708 0.480 5 79126136 missense variant G/A snv 0.30 0.28
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.030 1.000 3 2018 2019
dbSNP: rs3733890
rs3733890 		0.708 0.480 5 79126136 missense variant G/A snv 0.30 0.28
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.030 0.667 3 2003 2018
dbSNP: rs3733890
rs3733890 		0.708 0.480 5 79126136 missense variant G/A snv 0.30 0.28
CUI: C0080178
Disease: Spina Bifida
Spina Bifida 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.020 1.000 2 2005 2009
dbSNP: rs3733890
rs3733890 		0.708 0.480 5 79126136 missense variant G/A snv 0.30 0.28
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.020 0.500 2 2008 2009
dbSNP: rs3733890
rs3733890 		0.708 0.480 5 79126136 missense variant G/A snv 0.30 0.28
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.020 0.500 2 2008 2009
dbSNP: rs749710704
rs749710704 		0.790 0.160 5 79119289 missense variant C/G;T snv 4.0E-06; 4.0E-06
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		Neoplasms 0.020 1.000 2 2012 2012
dbSNP: rs3733890
rs3733890 		0.708 0.480 5 79126136 missense variant G/A snv 0.30 0.28
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 < 0.001 1 2017 2017
dbSNP: rs3733890
rs3733890 		0.708 0.480 5 79126136 missense variant G/A snv 0.30 0.28
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs3733890
rs3733890 		0.708 0.480 5 79126136 missense variant G/A snv 0.30 0.28
CUI: C0014175
Disease: Endometriosis
Endometriosis 		Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2011 2011
dbSNP: rs3733890
rs3733890 		0.708 0.480 5 79126136 missense variant G/A snv 0.30 0.28
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 2003 2003
dbSNP: rs3733890
rs3733890 		0.708 0.480 5 79126136 missense variant G/A snv 0.30 0.28
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 < 0.001 1 2017 2017
dbSNP: rs3733890
rs3733890 		0.708 0.480 5 79126136 missense variant G/A snv 0.30 0.28
CUI: C0008412
Disease: Choline Deficiency
Choline Deficiency 		Nutritional and Metabolic Diseases 0.010 < 0.001 1 2006 2006
dbSNP: rs3733890
rs3733890 		0.708 0.480 5 79126136 missense variant G/A snv 0.30 0.28
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs3733890
rs3733890 		0.708 0.480 5 79126136 missense variant G/A snv 0.30 0.28
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		Mental Disorders 0.010 1.000 1 2018 2018
dbSNP: rs3733890
rs3733890 		0.708 0.480 5 79126136 missense variant G/A snv 0.30 0.28
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia 		0.010 < 0.001 1 2017 2017
dbSNP: rs3733890
rs3733890 		0.708 0.480 5 79126136 missense variant G/A snv 0.30 0.28
CUI: C1302401
Disease: Adenoma of large intestine
Adenoma of large intestine 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2007 2007
dbSNP: rs3733890
rs3733890 		0.708 0.480 5 79126136 missense variant G/A snv 0.30 0.28
CUI: C0795690
Disease: Congenital omphalocele
Congenital omphalocele 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.010 1.000 1 2012 2012
dbSNP: rs492842
rs492842 		5 79114164 intron variant C/T snv 0.59
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs542852
rs542852 		5 79113573 intron variant T/C snv 0.63
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs558133
rs558133 		1.000 0.120 5 79129365 intron variant C/A;T snv
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2012 2012