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: rs1141718
rs1141718
SOD2
15 0.724 0.280 6 159688224 missense variant A/G snv 0.010 1.000 1 2010 2010
dbSNP: rs1258767
rs1258767
FMN1
1 1.000 0.120 15 32834253 intron variant A/G snv 0.18 0.700 1.000 1 2014 2014
dbSNP: rs12628
rs12628
HRAS ; LRRC56
10 0.776 0.160 11 534242 synonymous variant A/G snv 0.32 0.34 0.010 1.000 1 2013 2013
dbSNP: rs1484761909
rs1484761909
GSTM1 ; GSTM2
3 0.882 0.120 1 109688224 missense variant A/G snv 3.0E-05 3.8E-05 0.010 1.000 1 2012 2012
dbSNP: rs17576
rs17576
MMP9
73 0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36 0.010 1.000 1 2010 2010
dbSNP: rs1805105
rs1805105
AXIN1
11 0.776 0.280 16 346264 synonymous variant A/G snv 0.61 0.69 0.010 1.000 1 2019 2019
dbSNP: rs1883965
rs1883965
MTOR
8 0.807 0.160 1 11262099 intron variant A/G snv 0.63 0.010 1.000 1 2018 2018
dbSNP: rs1937920
rs1937920 		2 0.925 0.120 10 5119763 downstream gene variant A/G snv 0.28 0.010 1.000 1 2016 2016
dbSNP: rs34009635
rs34009635
MMP8
17 0.716 0.360 11 102713445 missense variant A/G snv 2.5E-03 6.2E-04 0.010 1.000 1 2018 2018
dbSNP: rs3731239
rs3731239
CDKN2A
10 0.763 0.240 9 21974219 intron variant A/G snv 0.26 0.010 1.000 1 2014 2014
dbSNP: rs6464268
rs6464268 		3 0.882 0.120 7 152684065 intergenic variant A/G snv 0.23 0.010 1.000 1 2007 2007
dbSNP: rs709816
rs709816
NBN
10 0.752 0.320 8 89955483 synonymous variant A/G snv 0.47 0.51 0.010 1.000 1 2010 2010
dbSNP: rs7211818
rs7211818
RPTOR
5 0.827 0.200 17 80715103 intron variant A/G snv 0.23 0.010 1.000 1 2009 2009
dbSNP: rs778990691
rs778990691
CCNH
6 0.807 0.240 5 87395069 missense variant A/G snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs8679
rs8679
PARP1
7 0.790 0.200 1 226360853 3 prime UTR variant A/G snv 0.16 0.010 1.000 1 2012 2012
dbSNP: rs9288518
rs9288518
XRCC5
9 0.776 0.240 2 216196997 intron variant A/G snv 0.35 0.010 1.000 1 2009 2009
dbSNP: rs156697
rs156697
GSTO2
25 0.672 0.560 10 104279427 missense variant A/G;T snv 0.35 0.020 1.000 2 2012 2015
dbSNP: rs10719
rs10719
DROSHA
24 0.677 0.680 5 31401340 3 prime UTR variant A/G;T snv 0.69 0.010 1.000 1 2013 2013
dbSNP: rs1135612
rs1135612
POR
3 0.882 0.120 7 75980359 synonymous variant A/G;T snv 0.28 0.010 1.000 1 2015 2015
dbSNP: rs121913279
rs121913279
PIK3CA
101 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs140241283
rs140241283
MTHFR
3 0.882 0.120 1 11796249 start lost A/G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs2230641
rs2230641
CCNH
8 0.807 0.240 5 87399457 missense variant A/G;T snv 0.18 0.17 0.010 1.000 1 2007 2007
dbSNP: rs2234922
rs2234922
EPHX1
42 0.630 0.440 1 225838705 missense variant A/G;T snv 0.19; 2.8E-05 0.010 1.000 1 2011 2011
dbSNP: rs2306283
rs2306283
SLCO1B1
16 0.742 0.320 12 21176804 missense variant A/G;T snv 0.47 0.010 1.000 1 2014 2014
dbSNP: rs9034
rs9034
NAMPT
5 0.827 0.200 7 106249610 3 prime UTR variant A/G;T snv 0.010 1.000 1 2014 2014