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: 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: 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: 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: 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: 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: 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: 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: 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: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.010 1.000 1 2012 2012