Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs4242182
rs4242182
MSX2
2 5 174729165 missense variant T/A;C;G snv 4.0E-06; 0.88; 1.2E-05 0.010 1.000 1 2011 2011
dbSNP: rs1950902
rs1950902
MTHFD1
11 0.776 0.240 14 64415662 missense variant A/G snv 0.83 0.83 0.010 < 0.001 1 2015 2015
dbSNP: rs2276731
rs2276731
ALDH1L1
1 3 126155545 non coding transcript exon variant C/T snv 0.83 0.83 0.010 1.000 1 2016 2016
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 1.000 1 2004 2004
dbSNP: rs7946
rs7946
PEMT
6 0.851 0.160 17 17506246 missense variant C/T snv 0.59 0.59 0.010 1.000 1 2014 2014
dbSNP: rs1801198
rs1801198
TCN2
26 0.677 0.400 22 30615623 missense variant G/A;C snv 5.6E-05; 0.57 0.010 1.000 1 2011 2011
dbSNP: rs8589
rs8589
MMUT
1 6 49435569 missense variant T/C snv 0.56 0.59 0.010 < 0.001 1 2003 2003
dbSNP: rs2229384
rs2229384
MMUT
1 6 49457808 synonymous variant C/T snv 0.56 0.59 0.010 < 0.001 1 2003 2003
dbSNP: rs1051266
rs1051266
SLC19A1
41 0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06 0.060 0.833 6 2003 2018
dbSNP: rs2797840
rs2797840
SARDH
2 1.000 0.080 9 133671511 intron variant G/A;C snv 0.53; 1.1E-04 0.010 1.000 1 2016 2016
dbSNP: rs3808553
rs3808553
FZD6
1 8 103325139 missense variant A/C;G snv 0.47 0.010 1.000 1 2014 2014
dbSNP: rs1801394
rs1801394
MTRR ; FASTKD3
101 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 0.100 0.846 13 1999 2019
dbSNP: rs4816
rs4816
PCMT1
2 1.000 0.080 6 149793609 missense variant G/A snv 0.46 0.53 0.010 1.000 1 2006 2006
dbSNP: rs4633
rs4633
COMT ; MIR4761
25 0.695 0.400 22 19962712 synonymous variant C/T snv 0.46 0.45 0.010 1.000 1 2014 2014
dbSNP: rs4680
rs4680
COMT ; MIR4761
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.010 1.000 1 2015 2015
dbSNP: rs2236225
rs2236225
MTHFD1
52 0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38 0.100 0.857 14 2002 2019
dbSNP: rs1052536
rs1052536
LIG3
10 0.776 0.200 17 35004556 3 prime UTR variant C/T snv 0.42 0.36 0.010 1.000 1 2018 2018
dbSNP: rs660339
rs660339
UCP2
24 0.695 0.320 11 73978059 missense variant G/A snv 0.41 0.43 0.010 1.000 1 2012 2012
dbSNP: rs699517
rs699517
TYMS ; ENOSF1
1 18 673016 3 prime UTR variant C/T snv 0.38 0.40 0.010 1.000 1 2012 2012
dbSNP: rs2073817
rs2073817
SARDH
1 9 133694338 missense variant C/G;T snv 0.38 0.010 1.000 1 2016 2016
dbSNP: rs1141321
rs1141321
MMUT
1 6 49444720 missense variant C/G;T snv 0.32 0.010 < 0.001 1 2003 2003
dbSNP: rs1801133
rs1801133
MTHFR
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.060 1.000 6 2012 2019
dbSNP: rs1532268
rs1532268
MTRR
12 0.776 0.280 5 7878066 missense variant C/T snv 0.31 0.32 0.010 1.000 1 2005 2005
dbSNP: rs3733890
rs3733890
BHMT ; DMGDH
16 0.708 0.480 5 79126136 missense variant G/A snv 0.30 0.28 0.030 0.667 3 2003 2018
dbSNP: rs202676
rs202676
FOLH1
7 0.851 0.160 11 49206068 stop lost A/G snv 0.28 0.33 0.010 1.000 1 2018 2018