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: rs754980119
rs754980119
MTHFR
0.925 0.280 1 11802962 missense variant C/G;T snv 4.0E-06; 5.6E-05
CUI: C1856058
Disease: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY 		0.810 1.000 1 1995 2015
dbSNP: rs1801133
rs1801133
MTHFR
0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.760 1.000 6 2008 2017
dbSNP: rs9651118
rs9651118
MTHFR
0.683 0.480 1 11802157 intron variant T/C snv 0.18
CUI: C2931384
Disease: Moyamoya disease 1
Moyamoya disease 1 		0.710 1.000 1 2018 2018
dbSNP: rs9651118
rs9651118
MTHFR
0.683 0.480 1 11802157 intron variant T/C snv 0.18
CUI: C0026654
Disease: Moyamoya Disease
Moyamoya Disease 		0.710 1.000 1 2018 2018
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: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.100 0.829 70 1999 2018
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: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.100 0.903 62 2002 2019
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.100 0.902 61 2002 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: 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: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.100 0.839 56 1999 2018
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: C0948008
Disease: Ischemic stroke
Ischemic stroke 		0.100 0.923 52 1999 2019
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		0.100 0.935 46 2001 2019
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.100 0.841 44 1999 2019
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.100 0.976 41 2002 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: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		0.100 0.872 39 2005 2019
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.100 0.973 37 2002 2019
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		0.100 0.943 35 2001 2019
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.100 0.882 34 1999 2019
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		0.100 0.879 33 1999 2019