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: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.090 0.889 9 2005 2013
dbSNP: rs4680
rs4680
COMT ; MIR4761
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.010 < 0.001 1 2016 2016
dbSNP: rs1695
rs1695
GSTP1
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.080 1.000 8 2001 2019
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.080 1.000 8 2005 2013
dbSNP: rs2910164
rs2910164
MIR146A ; MIR3142HG
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.050 1.000 5 2012 2018
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.030 1.000 3 2011 2015
dbSNP: rs1801133
rs1801133
MTHFR
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.020 0.500 2 2013 2013
dbSNP: rs2736100
rs2736100
TERT
83 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 0.020 1.000 2 2011 2013
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2015 2015
dbSNP: rs1800470
rs1800470
TGFB1
107 0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 0.010 1.000 1 2015 2015
dbSNP: rs1800471
rs1800471
TGFB1
48 0.597 0.840 19 41352971 missense variant C/G;T snv 5.6E-02 0.010 1.000 1 2015 2015
dbSNP: rs1801282
rs1801282
PPARG
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.010 1.000 1 2005 2005
dbSNP: rs1805192
rs1805192
PPARG
121 0.510 0.840 3 12379739 missense variant C/G snv 0.010 1.000 1 2005 2005
dbSNP: rs2010963
rs2010963
VEGFA
82 0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68 0.010 1.000 1 2017 2017
dbSNP: rs3212227
rs3212227
IL12B
65 0.566 0.840 5 159315942 3 prime UTR variant T/G snv 0.26 0.010 1.000 1 2014 2014
dbSNP: rs4986791
rs4986791
TLR4
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.010 1.000 1 2013 2013
dbSNP: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.100 0.615 13 2004 2016
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.080 1.000 8 2010 2015
dbSNP: rs1799782
rs1799782
XRCC1
151 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 0.080 0.750 8 2008 2016
dbSNP: rs1052133
rs1052133
OGG1 ; CAMK1
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.070 0.857 7 2007 2014
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.070 1.000 7 2010 2015
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.070 1.000 7 2010 2015
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.020 1.000 2 2004 2009
dbSNP: rs953038635
rs953038635
SOD2
51 0.590 0.800 6 159692720 missense variant G/A;T snv 8.0E-06 0.020 0.500 2 2004 2014