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: rs1360182594
rs1360182594
MTHFR
1 11790755 synonymous variant G/A snv 4.0E-06
CUI: C0011991
Disease: Diarrhea
Diarrhea 		0.010 1.000 1 2015 2015
dbSNP: rs17367504
rs17367504
MTHFR
1.000 0.040 1 11802721 intron variant A/G snv 0.14
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.030 0.667 3 2011 2017
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: rs121434296
rs121434296
MTHFR
0.882 0.040 1 11794766 missense variant G/A snv 2.0E-05 3.5E-05
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.010 1.000 1 2014 2014
dbSNP: rs1314498183
rs1314498183
MTHFR
1.000 0.040 1 11803469 missense variant G/A snv 4.2E-06
CUI: C0398623
Disease: Thrombophilia
Thrombophilia 		0.010 1.000 1 2012 2012
dbSNP: rs13306560
rs13306560
CLCN6 ; MTHFR
1.000 0.040 1 11806126 5 prime UTR variant C/T snv 3.7E-02
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		0.010 1.000 1 2015 2015
dbSNP: rs13306560
rs13306560
CLCN6 ; MTHFR
1.000 0.040 1 11806126 5 prime UTR variant C/T snv 3.7E-02
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.010 1.000 1 2015 2015
dbSNP: rs1374061192
rs1374061192
MTHFR
1.000 0.040 1 11801186 synonymous variant C/T snv 4.0E-06
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.010 1.000 1 2011 2011
dbSNP: rs145641996
rs145641996
MTHFR
1.000 0.040 1 11792285 missense variant T/C;G snv 1.6E-05; 1.6E-04
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.010 1.000 1 2015 2015
dbSNP: rs145641996
rs145641996
MTHFR
1.000 0.040 1 11792285 missense variant T/C;G snv 1.6E-05; 1.6E-04
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease 		0.010 1.000 1 2015 2015
dbSNP: rs17367504
rs17367504
MTHFR
1.000 0.040 1 11802721 intron variant A/G snv 0.14
CUI: C0020651
Disease: Hypotension, Orthostatic
Hypotension, Orthostatic 		0.010 1.000 1 2012 2012
dbSNP: rs17421511
rs17421511
MTHFR
1.000 0.040 1 11797731 intron variant G/A snv 0.13
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.010 < 0.001 1 2010 2010
dbSNP: rs202095816
rs202095816
MTHFR
1.000 0.040 1 11801254 missense variant T/C snv 1.6E-05 1.4E-05
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.010 1.000 1 2014 2014
dbSNP: rs760161369
rs760161369
MTHFR
0.882 0.040 1 11800214 missense variant G/A;C snv 2.8E-05; 4.0E-06
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		0.010 < 0.001 1 2012 2012
dbSNP: rs760161369
rs760161369
MTHFR
0.882 0.040 1 11800214 missense variant G/A;C snv 2.8E-05; 4.0E-06
CUI: C0041696
Disease: Unipolar Depression
Unipolar Depression 		0.010 < 0.001 1 2012 2012
dbSNP: rs761230732
rs761230732
MTHFR
1.000 0.040 1 11801211 missense variant A/C;G snv 4.0E-06
CUI: C0206368
Disease: Exfoliation Syndrome
Exfoliation Syndrome 		0.010 1.000 1 2013 2013
dbSNP: rs774321998
rs774321998
MTHFR ; C1orf167
1.000 0.040 1 11790683 missense variant T/C snv 4.0E-06 7.0E-06
CUI: C1270972
Disease: Mild cognitive disorder
Mild cognitive disorder 		0.010 1.000 1 2015 2015
dbSNP: rs915014
rs915014
MTHFR ; C1orf167
0.925 0.040 1 11789412 missense variant T/C snv
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		0.010 1.000 1 2018 2018
dbSNP: rs915014
rs915014
MTHFR ; C1orf167
0.925 0.040 1 11789412 missense variant T/C snv
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		0.010 1.000 1 2018 2018
dbSNP: rs1200746244
rs1200746244
MTHFR
0.807 0.080 1 11801287 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.040 1.000 4 2008 2017
dbSNP: rs1200746244
rs1200746244
MTHFR
0.807 0.080 1 11801287 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		0.020 1.000 2 2014 2015
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: 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