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: rs1127313
rs1127313
ADAR ; CHRNB2
1 1.000 0.120 1 154583949 3 prime UTR variant G/A snv 0.41 0.010 1.000 1 2016 2016
dbSNP: rs1128503
rs1128503
ABCB1
64 0.564 0.760 7 87550285 synonymous variant A/G snv 0.54 0.63 0.010 1.000 1 2013 2013
dbSNP: rs1130409
rs1130409
APEX1
72 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 0.010 1.000 1 2013 2013
dbSNP: rs1136905
rs1136905
HLA-DRB3 ; HLA-DRB5
3 0.882 0.120 6 32518660 missense variant T/A;C snv 4.2E-03 0.010 1.000 1 2018 2018
dbSNP: rs114972508
rs114972508
EGFR ; LOC105375284
2 0.925 0.120 7 55020815 intron variant T/C snv 1.4E-02 0.010 1.000 1 2019 2019
dbSNP: rs11568820
rs11568820
VDR
27 0.672 0.480 12 47908762 intron variant C/T snv 0.38 0.010 1.000 1 2007 2007
dbSNP: rs11655505
rs11655505
BRCA1 ; NBR2
8 0.776 0.160 17 43126360 intron variant G/A snv 0.31 0.010 1.000 1 2013 2013
dbSNP: rs11683487
rs11683487
NMI
3 0.882 0.120 2 151286035 intron variant G/T snv 0.36 0.010 1.000 1 2009 2009
dbSNP: rs11696662
rs11696662
PLCG1
2 0.925 0.120 20 41161795 intron variant C/T snv 4.4E-02 0.010 1.000 1 2014 2014
dbSNP: rs11782652
rs11782652
CHMP4C
4 0.851 0.120 8 81741409 intron variant A/G snv 6.6E-02 0.010 1.000 1 2013 2013
dbSNP: rs1192691
rs1192691 		2 0.925 0.120 10 36880367 regulatory region variant G/T snv 0.90 0.010 1.000 1 2014 2014
dbSNP: rs11954856
rs11954856
APC
12 0.732 0.200 5 112751630 intron variant T/G snv 0.54 0.010 1.000 1 2014 2014
dbSNP: rs121434568
rs121434568
EGFR
73 0.568 0.560 7 55191822 missense variant T/A;G snv 0.010 1.000 1 2007 2007
dbSNP: rs121434596
rs121434596
NRAS
26 0.677 0.440 1 114716123 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2018 2018
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: rs121913343
rs121913343
TP53
44 0.611 0.520 17 7673803 missense variant G/A;C;T snv 1.2E-05 0.010 1.000 1 2011 2011
dbSNP: rs121913529
rs121913529
KRAS
144 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs12373237
rs12373237
LAMA3
5 0.851 0.200 18 23845972 intron variant G/A snv 0.47 0.010 1.000 1 2019 2019
dbSNP: rs1243180
rs1243180
MLLT10
7 0.790 0.160 10 21626690 intron variant T/A snv 0.23 0.010 1.000 1 2013 2013
dbSNP: rs1256030
rs1256030
ESR2
6 0.827 0.240 14 64280452 intron variant A/G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs1256031
rs1256031
ESR2
9 0.790 0.200 14 64279461 intron variant G/A;T snv 0.57 0.010 1.000 1 2009 2009
dbSNP: rs1265794840
rs1265794840
ERCC2
6 0.851 0.160 19 45365131 missense variant C/T snv 7.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs12921862
rs12921862
AXIN1
10 0.763 0.200 16 331927 intron variant C/A snv 0.18 0.010 1.000 1 2019 2019
dbSNP: rs13063604
rs13063604
RUVBL1
3 0.882 0.120 3 128085887 intron variant G/A snv 0.23 0.010 1.000 1 2011 2011
dbSNP: rs13281615
rs13281615
POU5F1B ; CASC8 ; PCAT1 ; CASC21
18 0.716 0.360 8 127343372 intron variant A/G snv 0.43 0.010 < 0.001 1 2017 2017