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: rs2303426
rs2303426
MSH2
8 0.790 0.080 2 47403411 intron variant C/A;G;T snv 1.9E-05; 0.47 0.010 1.000 1 2011 2011
dbSNP: rs2695121
rs2695121
NR1H2
16 0.716 0.280 19 50377484 5 prime UTR variant T/C snv 0.70 0.020 < 0.001 2 2013 2014
dbSNP: rs35463555
rs35463555
NR1H2
8 0.776 0.160 19 50374423 intron variant G/A snv 0.29 0.010 < 0.001 1 2013 2013
dbSNP: rs7120118
rs7120118
NR1H3
18 0.716 0.360 11 47264739 intron variant T/C snv 0.38 0.010 < 0.001 1 2013 2013
dbSNP: rs1444424830
rs1444424830
FASTK
7 0.790 0.080 7 151078923 missense variant C/T snv 4.6E-06 7.0E-06 0.010 < 0.001 1 2014 2014
dbSNP: rs17577
rs17577
MMP9 ; SLC12A5-AS1
31 0.649 0.520 20 46014472 missense variant G/A;C snv 0.16 0.010 < 0.001 1 2014 2014
dbSNP: rs20575
rs20575
TNFRSF10A
29 0.645 0.440 8 23201811 missense variant C/G snv 0.54 0.44 0.010 1.000 1 2014 2014
dbSNP: rs20576
rs20576
TNFRSF10A
34 0.637 0.400 8 23200707 missense variant T/G snv 0.15 0.14 0.010 1.000 1 2014 2014
dbSNP: rs2234767
rs2234767
ACTA2 ; FAS
30 0.649 0.280 10 88989499 intron variant G/A;T snv 0.15 0.010 1.000 1 2014 2014
dbSNP: rs2250889
rs2250889
MMP9 ; SLC12A5-AS1
24 0.667 0.520 20 46013767 missense variant G/C;T snv 0.88; 1.6E-05 0.010 < 0.001 1 2014 2014
dbSNP: rs2274223
rs2274223
PLCE1
40 0.620 0.400 10 94306584 missense variant A/G snv 0.28 0.31 0.010 < 0.001 1 2014 2014
dbSNP: rs2486758
rs2486758
CYP17A1
11 0.742 0.160 10 102837723 upstream gene variant T/C snv 0.18 0.010 1.000 1 2014 2014
dbSNP: rs6557634
rs6557634
TNFRSF10A
11 0.763 0.080 8 23202743 missense variant T/C snv 0.010 1.000 1 2014 2014
dbSNP: rs743572
rs743572
CYP17A1
24 0.672 0.360 10 102837395 5 prime UTR variant A/G;T snv 0.40; 8.1E-06 0.010 1.000 1 2014 2014
dbSNP: rs763110
rs763110
FASLG
30 0.653 0.560 1 172658358 upstream gene variant C/T snv 0.49 0.010 1.000 1 2014 2014
dbSNP: rs775066324
rs775066324
TIMP2
7 0.790 0.080 17 78855710 missense variant G/A;C snv 4.0E-06; 4.0E-06 0.010 < 0.001 1 2014 2014
dbSNP: rs779162432
rs779162432
PPIG
7 0.790 0.080 2 169637315 missense variant A/G snv 4.1E-06 0.010 < 0.001 1 2014 2014
dbSNP: rs7922612
rs7922612
PLCE1
14 0.752 0.080 10 94051682 intron variant C/T snv 0.39 0.010 < 0.001 1 2014 2014
dbSNP: rs951540403
rs951540403
PLCE1
7 0.790 0.080 10 94132433 missense variant G/C snv 0.010 < 0.001 1 2014 2014
dbSNP: rs104886003
rs104886003
PIK3CA
71 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1126497
rs1126497
EPCAM
14 0.716 0.200 2 47373967 missense variant T/C snv 0.51 0.58 0.010 1.000 1 2016 2016
dbSNP: rs1157
rs1157
ALCAM
7 0.790 0.080 3 105576617 3 prime UTR variant G/A snv 0.16 0.010 1.000 1 2016 2016
dbSNP: rs11954856
rs11954856
APC
12 0.732 0.200 5 112751630 intron variant T/G snv 0.54 0.010 1.000 1 2016 2016
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 2016 2016
dbSNP: rs13959
rs13959
ALDH1A1
7 0.790 0.080 9 72930966 synonymous variant G/A snv 0.48 0.42 0.010 1.000 1 2016 2016