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: 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: rs1476413
rs1476413
MTHFR
0.790 0.360 1 11792243 intron variant C/G;T snv 4.0E-06; 0.26 0.23
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		0.020 1.000 2 2011 2016
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
dbSNP: rs12121543
rs12121543
MTHFR
0.851 0.240 1 11794614 intron variant C/A snv 0.21
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2015 2015
dbSNP: rs1476413
rs1476413
MTHFR
0.790 0.360 1 11792243 intron variant C/G;T snv 4.0E-06; 0.26 0.23
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.010 1.000 1 2012 2012
dbSNP: rs1476413
rs1476413
MTHFR
0.790 0.360 1 11792243 intron variant C/G;T snv 4.0E-06; 0.26 0.23
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.010 1.000 1 2011 2011
dbSNP: rs1476413
rs1476413
MTHFR
0.790 0.360 1 11792243 intron variant C/G;T snv 4.0E-06; 0.26 0.23
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.010 1.000 1 2012 2012
dbSNP: rs1476413
rs1476413
MTHFR
0.790 0.360 1 11792243 intron variant C/G;T snv 4.0E-06; 0.26 0.23
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		0.010 1.000 1 2012 2012
dbSNP: rs1476413
rs1476413
MTHFR
0.790 0.360 1 11792243 intron variant C/G;T snv 4.0E-06; 0.26 0.23
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2013 2013
dbSNP: rs1476413
rs1476413
MTHFR
0.790 0.360 1 11792243 intron variant C/G;T snv 4.0E-06; 0.26 0.23
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 1.000 1 2011 2011
dbSNP: rs1476413
rs1476413
MTHFR
0.790 0.360 1 11792243 intron variant C/G;T snv 4.0E-06; 0.26 0.23
CUI: C0025312
Disease: Meningomyelocele
Meningomyelocele 		0.010 < 0.001 1 2012 2012
dbSNP: rs1476413
rs1476413
MTHFR
0.790 0.360 1 11792243 intron variant C/G;T snv 4.0E-06; 0.26 0.23
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		0.010 1.000 1 2012 2012
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: rs3737964
rs3737964
CLCN6 ; MTHFR
1.000 0.080 1 11806987 intron variant T/A;C;G snv
CUI: C2745948
Disease: Hyalinosis, Systemic
Hyalinosis, Systemic 		0.010 1.000 1 2019 2019
dbSNP: rs4846052
rs4846052
MTHFR
1.000 0.080 1 11797894 intron variant T/A;C snv
CUI: C0028754
Disease: Obesity
Obesity 		0.010 1.000 1 2019 2019
dbSNP: rs9651118
rs9651118
MTHFR
0.683 0.480 1 11802157 intron variant T/C snv 0.18
CUI: C0001857
Disease: AIDS related complex
AIDS related complex 		0.010 1.000 1 2015 2015
dbSNP: rs9651118
rs9651118
MTHFR
0.683 0.480 1 11802157 intron variant T/C snv 0.18
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2017 2017
dbSNP: rs9651118
rs9651118
MTHFR
0.683 0.480 1 11802157 intron variant T/C snv 0.18
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.010 1.000 1 2013 2013
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: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.010 1.000 1 2017 2017
dbSNP: rs9651118
rs9651118
MTHFR
0.683 0.480 1 11802157 intron variant T/C snv 0.18
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.010 1.000 1 2019 2019
dbSNP: rs9651118
rs9651118
MTHFR
0.683 0.480 1 11802157 intron variant T/C snv 0.18
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2015 2015