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: rs147495923
rs147495923
SLC5A11
1 1.000 0.080 16 24906679 missense variant A/G snv 1.2E-03 7.9E-04 0.010 1.000 1 2004 2004
dbSNP: rs34181110
rs34181110
MTHFD1
3 0.882 0.080 14 64425752 missense variant G/A snv 1.7E-03 2.4E-03 0.010 1.000 1 1998 1998
dbSNP: rs10135525
rs10135525
NKX2-8
1 1.000 0.080 14 36581342 missense variant C/T snv 9.1E-04 4.2E-03 0.010 1.000 1 2013 2013
dbSNP: rs61755040
rs61755040
NKX2-8
1 1.000 0.080 14 36581437 missense variant C/G snv 8.7E-03 9.2E-03 0.010 1.000 1 2013 2013
dbSNP: rs16939660
rs16939660
ALDH1A2
2 0.925 0.120 15 58010689 synonymous variant T/C snv 8.4E-03 1.5E-02 0.010 1.000 1 2009 2009
dbSNP: rs11569688
rs11569688
NNMT
1 1.000 0.080 11 114312721 3 prime UTR variant G/A snv 0.13 0.010 1.000 1 2008 2008
dbSNP: rs11227332
rs11227332
CFL1 ; SNX32
1 1.000 0.080 11 65856268 5 prime UTR variant A/G snv 0.15 0.14 0.010 1.000 1 2007 2007
dbSNP: rs16863657
rs16863657
PAX3 ; CCDC140
1 1.000 0.080 2 222299799 intron variant A/G snv 0.16 0.010 1.000 1 2007 2007
dbSNP: rs2486668
rs2486668
GRHL3
6 0.807 0.320 1 24331573 missense variant C/G snv 0.16 0.17 0.010 1.000 1 2019 2019
dbSNP: rs10380
rs10380
MTRR
6 0.807 0.200 5 7897078 missense variant C/T snv 0.16 0.18 0.010 1.000 1 2009 2009
dbSNP: rs3783903
rs3783903
ITPK1
1 1.000 0.080 14 93015978 intron variant T/C snv 0.21 0.010 1.000 1 2014 2014
dbSNP: rs9332
rs9332
MTRR
2 0.925 0.200 5 7900599 3 prime UTR variant G/A snv 0.21 0.010 1.000 1 2009 2009
dbSNP: rs162036
rs162036
MTRR
6 0.827 0.200 5 7885846 missense variant A/G snv 0.18 0.21 0.010 1.000 1 2009 2009
dbSNP: rs4646337
rs4646337
NNMT
1 1.000 0.080 11 114312587 3 prime UTR variant A/G snv 0.21 0.010 1.000 1 2008 2008
dbSNP: rs737865
rs737865
COMT ; TXNRD2
11 0.763 0.240 22 19942598 intron variant A/G snv 0.23 0.010 1.000 1 2011 2011
dbSNP: rs1805134
rs1805134
LEPR
2 0.925 0.160 1 65601426 synonymous variant T/C snv 0.22 0.24 0.010 1.000 1 2011 2011
dbSNP: rs1137100
rs1137100
LEPR
39 0.627 0.640 1 65570758 missense variant A/G snv 0.30 0.25 0.010 1.000 1 2011 2011
dbSNP: rs1801133
rs1801133
MTHFR
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2009 2009
dbSNP: rs3733890
rs3733890
BHMT ; DMGDH
16 0.708 0.480 5 79126136 missense variant G/A snv 0.30 0.28 0.020 1.000 2 2005 2009
dbSNP: rs2236224
rs2236224
MTHFD1
1 1.000 0.080 14 64442433 intron variant G/A snv 0.40 0.33 0.010 1.000 1 2009 2009
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 2012 2012
dbSNP: rs2236225
rs2236225
MTHFD1
52 0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38 0.010 1.000 1 2016 2016
dbSNP: rs662
rs662
PON1
157 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.010 1.000 1 2010 2010
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 2014 2014
dbSNP: rs1801394
rs1801394
MTRR ; FASTKD3
101 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 0.030 1.000 3 2003 2009