Source: ALL

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: 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: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.100 0.667 21 1999 2019
dbSNP: rs2236225
rs2236225
MTHFD1
0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.100 0.857 14 2002 2019
dbSNP: rs1801394
rs1801394
MTRR ; FASTKD3
0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.100 0.846 13 1999 2019
dbSNP: rs1805087
rs1805087
MTR
0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.090 0.667 9 1997 2018
dbSNP: rs1051266
rs1051266
SLC19A1
0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.060 0.833 6 2003 2018
dbSNP: rs1801133
rs1801133
MTHFR
0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.060 1.000 6 2012 2019
dbSNP: rs368087026
rs368087026
SLC19A1
0.637 0.520 21 45530890 missense variant G/A snv
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.050 0.800 5 2003 2013
dbSNP: rs1206846668
rs1206846668
FOLH1
0.724 0.400 11 49185773 missense variant G/A snv 4.1E-06
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.030 1.000 3 2003 2010
dbSNP: rs1979277
rs1979277
SHMT1
0.620 0.560 17 18328782 missense variant G/A snv 0.27 0.31
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.030 1.000 3 2001 2017
dbSNP: rs3733890
rs3733890
BHMT ; DMGDH
0.708 0.480 5 79126136 missense variant G/A snv 0.30 0.28
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.030 0.667 3 2003 2018
dbSNP: rs1169089134
rs1169089134
FOLH1
0.790 0.320 11 49206785 missense variant C/G;T snv
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.020 1.000 2 2004 2010
dbSNP: rs1359880314
rs1359880314
SLC19A1
0.763 0.320 21 45534541 synonymous variant C/T snv 1.6E-05 2.8E-05
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.020 1.000 2 2004 2013
dbSNP: rs371399726
rs371399726
FOLR1
11 72196080 missense variant C/T snv 4.0E-05 5.6E-05
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.020 1.000 2 1999 2000
dbSNP: rs737865
rs737865
COMT ; TXNRD2
0.763 0.240 22 19942598 intron variant A/G snv 0.23
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.020 1.000 2 2014 2015
dbSNP: rs751421713
rs751421713
MTHFD1L
6 151013801 missense variant A/G snv 8.0E-06
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.020 1.000 2 2006 2009
dbSNP: rs777919630
rs777919630
CBS
0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.020 1.000 2 2001 2003
dbSNP: rs1039659576
rs1039659576
MTR
0.689 0.520 1 236803473 missense variant A/G snv
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.010 1.000 1 2013 2013
dbSNP: rs1051226
rs1051226
TPM3
1 154157607 3 prime UTR variant G/A snv
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.010 1.000 1 2019 2019
dbSNP: rs1052536
rs1052536
LIG3
0.776 0.200 17 35004556 3 prime UTR variant C/T snv 0.42 0.36
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.010 1.000 1 2018 2018
dbSNP: rs10786691
rs10786691
SUFU
0.925 0.160 10 102604895 intron variant G/A;T snv
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.010 1.000 1 2014 2014
dbSNP: rs10827337
rs10827337
PARD3
10 34202922 intron variant G/A snv 0.20
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.010 1.000 1 2012 2012
dbSNP: rs10925260
rs10925260
MTR
1 236884786 intron variant A/C snv 0.56
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.010 1.000 1 2014 2014
dbSNP: rs11247593
rs11247593
ARID1A
1 26725589 intron variant G/A snv 0.30
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.010 1.000 1 2014 2014
dbSNP: rs1141321
rs1141321
MMUT
6 49444720 missense variant C/G;T snv 0.32
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.010 < 0.001 1 2003 2003