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: 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: rs114673809
rs114673809
MTHFR ; C1orf167
0.882 0.080 1 11787703 3 prime UTR variant G/A snv 5.0E-03
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.010 1.000 1 2016 2016
dbSNP: rs114673809
rs114673809
MTHFR ; C1orf167
0.882 0.080 1 11787703 3 prime UTR variant G/A snv 5.0E-03
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.010 1.000 1 2015 2015
dbSNP: rs114673809
rs114673809
MTHFR ; C1orf167
0.882 0.080 1 11787703 3 prime UTR variant G/A snv 5.0E-03
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		0.010 1.000 1 2015 2015
dbSNP: rs1194897557
rs1194897557
MTHFR
0.827 0.240 1 11796276 missense variant A/G snv 8.0E-06
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		0.010 < 0.001 1 1996 1996
dbSNP: rs1194897557
rs1194897557
MTHFR
0.827 0.240 1 11796276 missense variant A/G snv 8.0E-06
CUI: C0398623
Disease: Thrombophilia
Thrombophilia 		0.010 1.000 1 2000 2000
dbSNP: rs1194897557
rs1194897557
MTHFR
0.827 0.240 1 11796276 missense variant A/G snv 8.0E-06
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.010 1.000 1 2014 2014
dbSNP: rs1194897557
rs1194897557
MTHFR
0.827 0.240 1 11796276 missense variant A/G snv 8.0E-06
CUI: C1704436
Disease: Peripheral Arterial Diseases
Peripheral Arterial Diseases 		0.010 1.000 1 2011 2011
dbSNP: rs1194897557
rs1194897557
MTHFR
0.827 0.240 1 11796276 missense variant A/G snv 8.0E-06
CUI: C1963943
Disease: Atherothrombosis
Atherothrombosis 		0.010 1.000 1 2002 2002
dbSNP: rs1199277582
rs1199277582
MTHFR
1.000 0.080 1 11801296 missense variant T/C snv 1.2E-05 1.4E-05
CUI: C0586354
Disease: Esophageal dysplasia
Esophageal dysplasia 		0.010 1.000 1 2008 2008
dbSNP: rs1200746244
rs1200746244
MTHFR
0.807 0.080 1 11801287 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0086132
Disease: Depressive Symptoms
Depressive Symptoms 		0.010 1.000 1 2016 2016
dbSNP: rs1200746244
rs1200746244
MTHFR
0.807 0.080 1 11801287 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0236788
Disease: Bipolar II disorder
Bipolar II disorder 		0.010 1.000 1 2015 2015
dbSNP: rs1200746244
rs1200746244
MTHFR
0.807 0.080 1 11801287 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0033975
Disease: Psychotic Disorders
Psychotic Disorders 		0.010 1.000 1 2012 2012
dbSNP: rs1200746244
rs1200746244
MTHFR
0.807 0.080 1 11801287 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		0.010 1.000 1 2012 2012
dbSNP: rs1200746244
rs1200746244
MTHFR
0.807 0.080 1 11801287 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0030193
Disease: Pain
Pain 		0.010 1.000 1 2014 2014
dbSNP: rs1200746244
rs1200746244
MTHFR
0.807 0.080 1 11801287 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0349204
Disease: Nonorganic psychosis
Nonorganic psychosis 		0.010 1.000 1 2012 2012
dbSNP: rs1200746244
rs1200746244
MTHFR
0.807 0.080 1 11801287 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0039494
Disease: Temporomandibular Joint Disorders
Temporomandibular Joint Disorders 		0.010 1.000 1 2014 2014
dbSNP: rs1200746244
rs1200746244
MTHFR
0.807 0.080 1 11801287 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0871189
Disease: Psychotic symptom
Psychotic symptom 		0.010 1.000 1 2012 2012
dbSNP: rs1200746244
rs1200746244
MTHFR
0.807 0.080 1 11801287 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0853193
Disease: Bipolar I disorder
Bipolar I disorder 		0.010 1.000 1 2016 2016
dbSNP: rs1203757587
rs1203757587
MTHFR
1.000 0.040 1 11792279 missense variant T/C snv 4.0E-06
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis 		0.010 1.000 1 2017 2017
dbSNP: rs12121543
rs12121543
MTHFR
0.851 0.240 1 11794614 intron variant C/A snv 0.21
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2015 2015
dbSNP: rs12121543
rs12121543
MTHFR
0.851 0.240 1 11794614 intron variant C/A snv 0.21
CUI: C0025312
Disease: Meningomyelocele
Meningomyelocele 		0.010 < 0.001 1 2012 2012
dbSNP: rs12121543
rs12121543
MTHFR
0.851 0.240 1 11794614 intron variant C/A snv 0.21
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 1.000 1 2014 2014