Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs2236225
rs2236225
MTHFD1
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 		0.700 1.000 3 1998 2006
dbSNP: rs2236225
rs2236225
MTHFD1
0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.100 0.857 14 2002 2019
dbSNP: rs2236225
rs2236225
MTHFD1
0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.040 1.000 4 2005 2013
dbSNP: rs2236225
rs2236225
MTHFD1
0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects 		0.030 1.000 3 2009 2017
dbSNP: rs2236225
rs2236225
MTHFD1
0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.030 1.000 3 2017 2018
dbSNP: rs2236225
rs2236225
MTHFD1
0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.030 0.667 3 2011 2017
dbSNP: rs2236225
rs2236225
MTHFD1
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 		0.020 1.000 2 2012 2013
dbSNP: rs2236225
rs2236225
MTHFD1
0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.020 1.000 2 2007 2010
dbSNP: rs2236225
rs2236225
MTHFD1
0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.020 1.000 2 2012 2014
dbSNP: rs2236225
rs2236225
MTHFD1
0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		0.020 1.000 2 2012 2014
dbSNP: rs2236225
rs2236225
MTHFD1
0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		0.020 1.000 2 2014 2017
dbSNP: rs2236225
rs2236225
MTHFD1
0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.020 1.000 2 2007 2017
dbSNP: rs2236225
rs2236225
MTHFD1
0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders 		0.020 0.500 2 2005 2014
dbSNP: rs2236225
rs2236225
MTHFD1
0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.020 1.000 2 2007 2017
dbSNP: rs2236225
rs2236225
MTHFD1
0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.020 1.000 2 2004 2017
dbSNP: rs2236225
rs2236225
MTHFD1
0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38
CUI: C4552766
Disease: Miscarriage
Miscarriage 		0.010 1.000 1 2013 2013
dbSNP: rs2236225
rs2236225
MTHFD1
0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38
CUI: C0021364
Disease: Male infertility
Male infertility 		0.010 1.000 1 2019 2019
dbSNP: rs2236225
rs2236225
MTHFD1
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 		0.010 1.000 1 2011 2011
dbSNP: rs2236225
rs2236225
MTHFD1
0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.010 1.000 1 2014 2014
dbSNP: rs2236225
rs2236225
MTHFD1
0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38
CUI: C0002902
Disease: Anencephaly
Anencephaly 		0.010 1.000 1 2016 2016
dbSNP: rs2236225
rs2236225
MTHFD1
0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.010 1.000 1 2011 2011
dbSNP: rs2236225
rs2236225
MTHFD1
0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38
CUI: C0302142
Disease: Deformity
Deformity 		0.010 1.000 1 2017 2017
dbSNP: rs2236225
rs2236225
MTHFD1
0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease 		0.010 1.000 1 2005 2005
dbSNP: rs2236225
rs2236225
MTHFD1
0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.010 1.000 1 2017 2017
dbSNP: rs2236225
rs2236225
MTHFD1
0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2013 2013