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: 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: 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: 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: 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: 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: 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: 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: rs141210410
rs141210410 		1.000 14 64417926 missense variant C/T snv 3.6E-05 7.0E-05
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 1 2011 2011
dbSNP: rs2236225
rs2236225 		0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38
CUI: C0014544
Disease: Epilepsy
Epilepsy 		Nervous System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs2236225
rs2236225 		0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38
CUI: C0014175
Disease: Endometriosis
Endometriosis 		Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2011 2011
dbSNP: rs2236225
rs2236225 		0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38
CUI: C0268615
Disease: 5,10-Methylenetetrahydrofolate reductase deficiency
5,10-Methylenetetrahydrofolate reductase deficiency 		Nutritional and Metabolic Diseases 0.010 1.000 1 2011 2011
dbSNP: rs2236225
rs2236225 		0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
Lymphoma, Non-Hodgkin 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2011 2011
dbSNP: rs11627387
rs11627387 		1.000 14 64457259 intron variant G/A snv 0.27
CUI: C1853238
Disease: Conotruncal defect
Conotruncal defect 		0.010 1.000 1 2012 2012
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: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.020 1.000 2 2012 2013
dbSNP: rs1076991
rs1076991 		0.925 0.200 14 64388323 5 prime UTR variant T/C;G snv 0.45; 8.1E-06
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2013 2013
dbSNP: rs17824591
rs17824591 		1.000 0.080 14 64420993 non coding transcript exon variant G/A snv 0.15
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2013 2013