rs2236225, MTHFD1

N. diseases: 52
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Neural tube defect, folate-sensitive
CUI: C1866558
Disease: Neural tube defect, folate-sensitive
2 0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38 0.700 1.000 3 1998 2006
Neural Tube Defects
CUI: C0027794
Disease: Neural Tube Defects
122 0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38 0.100 0.857 14 2002 2019
Coronary heart disease
CUI: C0010068
Disease: Coronary heart disease
1178 0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38 0.040 1.000 4 2005 2013
Congenital Abnormality
CUI: C0000768
Disease: Congenital Abnormality
73 0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38 0.030 1.000 3 2017 2018
Congenital Heart Defects
CUI: C0018798
Disease: Congenital Heart Defects
58 0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38 0.030 1.000 3 2009 2017
Neoplasms
CUI: C0027651
Disease: Neoplasms
1644 0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38 0.030 0.667 3 2011 2017
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
1843 0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38 0.020 1.000 2 2007 2010
Attention deficit hyperactivity disorder
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
420 0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38 0.020 1.000 2 2014 2017
Bipolar Disorder
CUI: C0005586
Disease: Bipolar Disorder
839 0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38 0.020 1.000 2 2007 2017
Childhood Acute Lymphoblastic Leukemia
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
261 0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38 0.020 1.000 2 2012 2013
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
1962 0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38 0.020 1.000 2 2004 2017
Complete Trisomy 21 Syndrome
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
77 0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38 0.020 1.000 2 2012 2014
Down Syndrome
CUI: C0013080
Disease: Down Syndrome
80 0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38 0.020 1.000 2 2012 2014
Migraine Disorders
CUI: C0149931
Disease: Migraine Disorders
264 0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38 0.020 0.500 2 2005 2014
Schizophrenia
CUI: C0036341
Disease: Schizophrenia
2897 0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38 0.020 1.000 2 2007 2017
5,10-Methylenetetrahydrofolate reductase deficiency
CUI: C0268615
Disease: 5,10-Methylenetetrahydrofolate reductase deficiency
6 0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38 0.010 1.000 1 2011 2011
Acute lymphocytic leukemia
CUI: C0023449
Disease: Acute lymphocytic leukemia
222 0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38 0.010 1.000 1 2013 2013
Acute myocardial infarction
CUI: C0155626
Disease: Acute myocardial infarction
118 0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38 0.010 1.000 1 2016 2016
Adult Acute Lymphocytic Leukemia
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
154 0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38 0.010 1.000 1 2013 2013
Anencephaly
CUI: C0002902
Disease: Anencephaly
10 0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38 0.010 1.000 1 2016 2016
Anterior encephalocele
CUI: C4024948
Disease: Anterior encephalocele
5 0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38 0.010 1.000 1 2017 2017
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
2793 0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38 0.010 1.000 1 2013 2013
Cleft Lip with or without Cleft Palate
CUI: C0810364
Disease: Cleft Lip with or without Cleft Palate
50 0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38 0.010 1.000 1 2008 2008
Cleft palate with cleft lip
CUI: C0158646
Disease: Cleft palate with cleft lip
43 0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38 0.010 1.000 1 2014 2014
Cognition Disorders
CUI: C0009241
Disease: Cognition Disorders
47 0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38 0.010 1.000 1 2014 2014