Source: BEFREE

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: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0080178
Disease: Spina Bifida
Spina Bifida 		0.100 0.938 16 1995 2014
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia 		0.100 0.936 156 1996 2019
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation 		0.100 0.932 59 1996 2019
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		0.100 0.942 52 1996 2019
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.100 0.870 23 1996 2019
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0002902
Disease: Anencephaly
Anencephaly 		0.040 1.000 4 1996 2015
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.100 0.914 70 1997 2017
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.100 0.882 68 1997 2019
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.100 0.922 64 1997 2019
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		0.100 0.950 40 1997 2016
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		0.100 0.903 31 1997 2015
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis 		0.100 0.952 21 1997 2019
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C3495426
Disease: Homocysteinemia
Homocysteinemia 		0.090 1.000 9 1997 2013
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0042847
Disease: Vitamin B 12 Deficiency
Vitamin B 12 Deficiency 		0.080 1.000 8 1997 2018
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0002871
Disease: Anemia
Anemia 		0.030 1.000 3 1997 2018
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0268611
Disease: Arakawa syndrome 2
Arakawa syndrome 2 		0.010 1.000 1 1997 1997
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C1855128
Disease: Methylcobalamin Deficiency, CblG Type
Methylcobalamin Deficiency, CblG Type 		0.010 1.000 1 1997 1997
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		0.010 1.000 1 1997 1997
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0002888
Disease: Anemia, Megaloblastic
Anemia, Megaloblastic 		0.010 1.000 1 1997 1997
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		0.100 0.914 58 1998 2018
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.100 0.862 29 1998 2019
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.100 1.000 12 1998 2019
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0035328
Disease: Retinal Vein Occlusion
Retinal Vein Occlusion 		0.090 0.667 9 1998 2019
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0810364
Disease: Cleft Lip with or without Cleft Palate
Cleft Lip with or without Cleft Palate 		0.050 0.800 5 1998 2016
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0037917
Disease: Spina Bifida Cystica
Spina Bifida Cystica 		0.040 0.750 4 1998 2004