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: rs1411468871
rs1411468871 		1.000 0.040 1 236810521 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 1.000 1 2013 2013
dbSNP: rs142648132
rs142648132 		0.827 0.160 1 236816521 missense variant G/A;C;T snv 8.4E-04; 2.4E-05
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs142648132
rs142648132 		0.827 0.160 1 236816521 missense variant G/A;C;T snv 8.4E-04; 2.4E-05
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1770449
rs1770449 		1.000 0.040 1 236874861 intron variant T/C snv 0.32 0.27
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1805087
rs1805087 		0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis 		Cardiovascular Diseases 0.010 1.000 1 2008 2008
dbSNP: rs1805087
rs1805087 		0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1805087
rs1805087 		0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21
CUI: C0042345
Disease: Varicosity
Varicosity 		Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1805087
rs1805087 		0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		Cardiovascular Diseases 0.010 1.000 1 2011 2011
dbSNP: rs1805087
rs1805087 		0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		Cardiovascular Diseases 0.010 1.000 1 2000 2000
dbSNP: rs1039659576
rs1039659576 		0.689 0.520 1 236803473 missense variant A/G snv
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.010 1.000 1 2018 2018
dbSNP: rs1805087
rs1805087 		0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.010 1.000 1 2012 2012
dbSNP: rs1805087
rs1805087 		0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21
CUI: C1840311
Disease: Laryngeal cleft
Laryngeal cleft 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.010 < 0.001 1 2012 2012
dbSNP: rs1805087
rs1805087 		0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1805087
rs1805087 		0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2007 2007
dbSNP: rs1039659576
rs1039659576 		0.689 0.520 1 236803473 missense variant A/G snv
CUI: C0041408
Disease: Turner Syndrome
Turner Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases; Cardiovascular Diseases 0.010 < 0.001 1 2015 2015
dbSNP: rs1805087
rs1805087 		0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21
CUI: C0041408
Disease: Turner Syndrome
Turner Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases; Cardiovascular Diseases 0.010 < 0.001 1 2015 2015
dbSNP: rs1805087
rs1805087 		0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.100 0.833 12 2003 2014
dbSNP: rs1805087
rs1805087 		0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.090 0.667 9 1997 2018
dbSNP: rs1039659576
rs1039659576 		0.689 0.520 1 236803473 missense variant A/G snv
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.080 1.000 8 2005 2017
dbSNP: rs1039659576
rs1039659576 		0.689 0.520 1 236803473 missense variant A/G snv
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs10925260
rs10925260 		1 236884786 intron variant A/C snv 0.56
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs150198234
rs150198234 		1 236852992 synonymous variant G/A snv 4.0E-06 1.4E-05
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 < 0.001 1 2003 2003
dbSNP: rs751839046
rs751839046 		1 236859890 missense variant G/A snv 4.0E-06
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 < 0.001 1 2003 2003
dbSNP: rs1805087
rs1805087 		0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.030 1.000 3 2002 2017
dbSNP: rs121913578
rs121913578 		0.851 0.280 1 236895470 missense variant C/T snv 6.4E-05 8.4E-05
CUI: C1855128
Disease: Methylcobalamin Deficiency, CblG Type
Methylcobalamin Deficiency, CblG Type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 2 1996 1996