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: rs2236225
rs2236225 		0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38
CUI: C1866558
Disease: Neural tube defect, folate-sensitive
Neural tube defect, folate-sensitive 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 3 1998 2006
dbSNP: rs34181110
rs34181110 		0.882 0.080 14 64425752 missense variant G/A snv 1.7E-03 2.4E-03
CUI: C1866558
Disease: Neural tube defect, folate-sensitive
Neural tube defect, folate-sensitive 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 3 1998 2006
dbSNP: rs34181110
rs34181110 		0.882 0.080 14 64425752 missense variant G/A snv 1.7E-03 2.4E-03
CUI: C0080178
Disease: Spina Bifida
Spina Bifida 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 1998 1998
dbSNP: rs34181110
rs34181110 		0.882 0.080 14 64425752 missense variant G/A snv 1.7E-03 2.4E-03
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 1998 1998
dbSNP: rs2236225
rs2236225 		0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.100 0.857 14 2002 2019
dbSNP: rs2236225
rs2236225 		0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.020 1.000 2 2004 2017
dbSNP: rs2236225
rs2236225 		0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.040 1.000 4 2005 2013
dbSNP: rs2236225
rs2236225 		0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders 		Nervous System Diseases 0.020 0.500 2 2005 2014
dbSNP: rs2236225
rs2236225 		0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38
CUI: C0018816
Disease: Heart Septal Defects
Heart Septal Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2005 2005
dbSNP: rs2236225
rs2236225 		0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2005 2005
dbSNP: rs2236225
rs2236225 		0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.020 1.000 2 2007 2017
dbSNP: rs2236225
rs2236225 		0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		Mental Disorders 0.020 1.000 2 2007 2017
dbSNP: rs2236225
rs2236225 		0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.020 1.000 2 2007 2010
dbSNP: rs2236225
rs2236225 		0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.010 1.000 1 2007 2007
dbSNP: rs2236225
rs2236225 		0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38
CUI: C0810364
Disease: Cleft Lip with or without Cleft Palate
Cleft Lip with or without Cleft Palate 		0.010 1.000 1 2008 2008
dbSNP: rs8003379
rs8003379 		0.882 0.160 14 64406881 intron variant A/C snv 0.23
CUI: C0162871
Disease: Aortic Aneurysm, Abdominal
Aortic Aneurysm, Abdominal 		Cardiovascular Diseases 0.010 1.000 1 2008 2008
dbSNP: rs8003379
rs8003379 		0.882 0.160 14 64406881 intron variant A/C snv 0.23
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.010 1.000 1 2008 2008
dbSNP: rs8006686
rs8006686 		0.925 0.040 14 64401953 intron variant T/C snv 0.22
CUI: C0017601
Disease: Glaucoma
Glaucoma 		Eye Diseases 0.010 1.000 1 2008 2008
dbSNP: rs2236225
rs2236225 		0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.030 1.000 3 2009 2017
dbSNP: rs10498514
rs10498514 		14 64432337 intron variant A/C snv 7.4E-02
CUI: C0027902
Disease: Neuropsychological Tests
Neuropsychological Tests 		0.700 1.000 1 2009 2009
dbSNP: rs2236224
rs2236224 		1.000 0.080 14 64442433 intron variant G/A snv 0.40 0.33
CUI: C0080178
Disease: Spina Bifida
Spina Bifida 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1950902
rs1950902 		0.776 0.240 14 64415662 missense variant A/G snv 0.83 0.83
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1555336810
rs1555336810 		1.000 14 64411115 missense variant T/C snv
CUI: C4540434
Disease: COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA 		0.800 1.000 3 2011 2017
dbSNP: rs1555337681
rs1555337681 		1.000 14 64424882 missense variant C/T snv
CUI: C4540434
Disease: COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA 		0.800 1.000 3 2011 2017
dbSNP: rs2236225
rs2236225 		0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.030 0.667 3 2011 2017