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: rs1057519945
rs1057519945
POLE
12 0.776 0.200 12 132673703 missense variant C/A;T snv 0.700 0
dbSNP: rs1555225958
rs1555225958
POLE
2 1.000 12 132661097 stop gained C/A snv 0.700 0
dbSNP: rs761329565
rs761329565
POLE
1 1.000 12 132681201 frameshift variant C/- delins 4.0E-06 0.700 0
dbSNP: rs9929218
rs9929218
CDH1
16 0.732 0.160 16 68787043 intron variant G/A snv 0.28 0.700 1.000 1 2008 2008
dbSNP: rs10936599
rs10936599
MYNN
32 0.637 0.600 3 169774313 synonymous variant C/T snv 0.29 0.21 0.700 1.000 1 2010 2010
dbSNP: rs11169552
rs11169552
ATF1
10 0.776 0.080 12 50761880 upstream gene variant C/T snv 0.23 0.700 1.000 1 2010 2010
dbSNP: rs4925386
rs4925386
LAMA5
14 0.776 0.080 20 62345988 intron variant T/C snv 0.56 0.700 1.000 1 2010 2010
dbSNP: rs6691170
rs6691170 		12 0.776 0.080 1 221872104 intergenic variant G/T snv 0.34 0.700 1.000 1 2010 2010
dbSNP: rs7758229
rs7758229
SLC22A3
16 0.732 0.120 6 160419220 intron variant G/A;T snv 0.700 1.000 1 2011 2011
dbSNP: rs5934683
rs5934683
GPR143
9 0.790 0.080 X 9783434 intron variant T/C snv 0.50 0.700 1.000 1 2012 2012
dbSNP: rs398122515
rs398122515
POLE
2 0.925 12 132643404 splice region variant T/C snv 7.0E-06 0.700 1.000 2 2013 2013
dbSNP: rs11903757
rs11903757 		11 0.763 0.160 2 191722478 intron variant T/C snv 0.16 0.700 1.000 1 2013 2013
dbSNP: rs13130787
rs13130787 		9 0.790 0.080 4 93965880 intergenic variant T/C snv 0.35 0.700 1.000 1 2013 2013
dbSNP: rs1665650
rs1665650
HSPA12A
12 0.752 0.160 10 116727589 intron variant T/C snv 0.69 0.700 1.000 1 2013 2013
dbSNP: rs3217901
rs3217901
CCND2
9 0.790 0.080 12 4296223 intron variant A/G snv 0.35 0.700 1.000 1 2013 2013
dbSNP: rs59336
rs59336
TBX3
10 0.776 0.160 12 114678547 intron variant T/A;G snv 0.49 0.700 1.000 1 2013 2013
dbSNP: rs1028166
rs1028166
TENM3 ; TENM3-AS1
9 0.790 0.080 4 181892145 intron variant G/A snv 0.74 0.700 1.000 1 2014 2014
dbSNP: rs13343954
rs13343954
RHPN2
9 0.790 0.080 19 33036982 intron variant T/C snv 0.18 0.700 1.000 1 2014 2014
dbSNP: rs140355816
rs140355816 		9 0.790 0.080 8 116562277 intergenic variant C/G snv 9.8E-03 0.700 1.000 1 2014 2014
dbSNP: rs1871438
rs1871438 		9 0.790 0.080 15 92316651 intron variant A/G snv 0.44 0.700 1.000 1 2014 2014
dbSNP: rs2901879
rs2901879 		9 0.790 0.080 2 66738934 intergenic variant C/T snv 0.54 0.700 1.000 1 2014 2014
dbSNP: rs34245511
rs34245511
LIMA1
9 0.790 0.080 12 50179650 intron variant G/C snv 0.37 0.700 1.000 1 2014 2014
dbSNP: rs35509282
rs35509282 		9 0.790 0.080 4 162412253 intergenic variant T/A snv 0.15 0.700 1.000 1 2014 2014
dbSNP: rs4143094
rs4143094
GATA3
12 0.752 0.240 10 8047173 intron variant T/G snv 0.70 0.700 1.000 1 2014 2014
dbSNP: rs4147045
rs4147045
LOC105374510
9 0.790 0.080 4 18793707 intron variant T/C snv 0.11 0.700 1.000 1 2014 2014