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: rs751421713
rs751421713 		6 151013801 missense variant A/G snv 8.0E-06
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.020 1.000 2 2006 2009
dbSNP: rs1339039642
rs1339039642 		6 150905744 missense variant C/T snv 1.4E-05
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2002 2002
dbSNP: rs1339039642
rs1339039642 		6 150905744 missense variant C/T snv 1.4E-05
CUI: C0154575
Disease: Rumination Disorders
Rumination Disorders 		Mental Disorders 0.010 1.000 1 2016 2016
dbSNP: rs1771798
rs1771798 		6 150960431 intron variant T/C;G snv 0.89
CUI: C0524957
Disease: Corneal Topography
Corneal Topography 		0.700 1.000 1 2011 2011
dbSNP: rs2295733
rs2295733 		6 151101564 3 prime UTR variant T/C snv 5.0E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs2295733
rs2295733 		6 151101564 3 prime UTR variant T/C snv 5.0E-02
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs7646
rs7646 		6 151101614 3 prime UTR variant A/G;T snv 0.22
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: rs9397365
rs9397365 		6 150915044 intron variant C/T snv 0.13
CUI: C1704436
Disease: Peripheral Arterial Diseases
Peripheral Arterial Diseases 		Cardiovascular Diseases 0.700 1.000 1 2016 2016
dbSNP: rs6922269
rs6922269 		0.807 0.200 6 150931849 intron variant G/A snv 0.35
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.830 1.000 5 2007 2014
dbSNP: rs6922269
rs6922269 		0.807 0.200 6 150931849 intron variant G/A snv 0.35
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.040 1.000 4 2010 2015
dbSNP: rs6922269
rs6922269 		0.807 0.200 6 150931849 intron variant G/A snv 0.35
CUI: C0948089
Disease: Acute Coronary Syndrome
Acute Coronary Syndrome 		Cardiovascular Diseases 0.020 1.000 2 2014 2015
dbSNP: rs6922269
rs6922269 		0.807 0.200 6 150931849 intron variant G/A snv 0.35
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.020 1.000 2 2009 2014
dbSNP: rs6922269
rs6922269 		0.807 0.200 6 150931849 intron variant G/A snv 0.35
CUI: C0742343
Disease: Acute Chest Syndrome
Acute Chest Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Hemic and Lymphatic Diseases 0.020 1.000 2 2011 2015
dbSNP: rs6922269
rs6922269 		0.807 0.200 6 150931849 intron variant G/A snv 0.35
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		Cardiovascular Diseases 0.020 0.500 2 2009 2014
dbSNP: rs6922269
rs6922269 		0.807 0.200 6 150931849 intron variant G/A snv 0.35
CUI: C0242339
Disease: Dyslipidemias
Dyslipidemias 		Nutritional and Metabolic Diseases 0.010 < 0.001 1 2015 2015
dbSNP: rs11754661
rs11754661 		0.851 0.120 6 150885942 intron variant G/A;T snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.820 0.667 3 2010 2011
dbSNP: rs11754661
rs11754661 		0.851 0.120 6 150885942 intron variant G/A;T snv
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		Nervous System Diseases; Mental Disorders 0.020 1.000 2 2010 2012
dbSNP: rs11754661
rs11754661 		0.851 0.120 6 150885942 intron variant G/A;T snv
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		Mental Disorders 0.010 1.000 1 2016 2016
dbSNP: rs11754661
rs11754661 		0.851 0.120 6 150885942 intron variant G/A;T snv
CUI: C0011570
Disease: Mental Depression
Mental Depression 		Behavior and Behavior Mechanisms 0.010 1.000 1 2016 2016
dbSNP: rs11754661
rs11754661 		0.851 0.120 6 150885942 intron variant G/A;T snv
CUI: C0344315
Disease: Depressed mood
Depressed mood 		Behavior and Behavior Mechanisms 0.010 1.000 1 2016 2016
dbSNP: rs11754661
rs11754661 		0.851 0.120 6 150885942 intron variant G/A;T snv
CUI: C0154575
Disease: Rumination Disorders
Rumination Disorders 		Mental Disorders 0.010 1.000 1 2016 2016
dbSNP: rs3832406
rs3832406 		0.925 6 150898848 intron variant -/A;ATA;ATTATG ins 5.8E-05; 4.3E-05 2.1E-05
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs3832406
rs3832406 		0.925 6 150898848 intron variant -/A;ATA;ATTATG ins 5.8E-05; 4.3E-05 2.1E-05
CUI: C0810364
Disease: Cleft Lip with or without Cleft Palate
Cleft Lip with or without Cleft Palate 		0.010 1.000 1 2012 2012
dbSNP: rs3832406
rs3832406 		0.925 6 150898848 intron variant -/A;ATA;ATTATG ins 5.8E-05; 4.3E-05 2.1E-05
CUI: C1837217
Disease: Cleft lip, isolated
Cleft lip, isolated 		0.010 1.000 1 2012 2012
dbSNP: rs766063498
rs766063498 		0.925 0.080 6 150905747 missense variant A/G;T snv 4.0E-06; 4.0E-06
CUI: C0080178
Disease: Spina Bifida
Spina Bifida 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 1998 1998