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: 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: rs1076991
rs1076991 		0.925 0.200 14 64388323 5 prime UTR variant T/C;G snv 0.45; 8.1E-06
CUI: C0155626
Disease: Acute myocardial infarction
Acute myocardial infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.020 1.000 2 2016 2016
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: 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: rs1256146
rs1256146 		14 64453947 intron variant G/A snv 0.17
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2015 2015
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: 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: 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
dbSNP: rs17857382
rs17857382 		14 64449470 missense variant C/G;T snv 4.0E-06; 7.6E-03
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 < 0.001 1 2015 2015
dbSNP: rs1950902
rs1950902 		0.776 0.240 14 64415662 missense variant A/G snv 0.83 0.83
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders 		Nervous System Diseases 0.010 < 0.001 1 2014 2014
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: rs1950902
rs1950902 		0.776 0.240 14 64415662 missense variant A/G snv 0.83 0.83
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs1950902
rs1950902 		0.776 0.240 14 64415662 missense variant A/G snv 0.83 0.83
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1950902
rs1950902 		0.776 0.240 14 64415662 missense variant A/G snv 0.83 0.83
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 < 0.001 1 2015 2015
dbSNP: rs1950902
rs1950902 		0.776 0.240 14 64415662 missense variant A/G snv 0.83 0.83
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs1950902
rs1950902 		0.776 0.240 14 64415662 missense variant A/G snv 0.83 0.83
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1950902
rs1950902 		0.776 0.240 14 64415662 missense variant A/G snv 0.83 0.83
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs1950902
rs1950902 		0.776 0.240 14 64415662 missense variant A/G snv 0.83 0.83
CUI: C0338480
Disease: Common Migraine
Common Migraine 		Nervous System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1950902
rs1950902 		0.776 0.240 14 64415662 missense variant A/G snv 0.83 0.83
CUI: C0023980
Disease: Longevity
Longevity 		0.700 1.000 1 2018 2018
dbSNP: rs1950902
rs1950902 		0.776 0.240 14 64415662 missense variant A/G snv 0.83 0.83
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2014 2014
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: 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: 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: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.030 0.667 3 2011 2017