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: rs1057519912
rs1057519912
MED12
11 0.776 0.200 X 71129408 missense variant C/G;T snv 0.020 0.500 2 2013 2016
dbSNP: rs73637412
rs73637412
GPR101
4 0.882 0.160 X 137030751 missense variant C/G;T snv 3.5E-03; 1.5E-03 0.010 1.000 1 2016 2016
dbSNP: rs753066745
rs753066745
SH3BGRL
2 X 81277164 missense variant C/T snv 1.7E-05 9.5E-06 0.010 1.000 1 2016 2016
dbSNP: rs80291436
rs80291436
VCX
3 1.000 0.080 X 7843706 missense variant T/A;C;G snv 4.9E-05; 0.19 0.010 1.000 1 2017 2017
dbSNP: rs4680
rs4680
COMT ; MIR4761
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.040 1.000 4 2007 2017
dbSNP: rs132770
rs132770
XRCC6 ; DESI1
14 0.752 0.320 22 41621260 5 prime UTR variant A/G snv 0.83 0.010 1.000 1 2015 2015
dbSNP: rs132793
rs132793 		7 0.851 0.160 22 41667677 downstream gene variant A/C;G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs2073859
rs2073859
LIMK2
4 0.882 0.120 22 31278567 3 prime UTR variant G/A snv 4.0E-02 0.010 1.000 1 2019 2019
dbSNP: rs2267437
rs2267437
XRCC6 ; DESI1
19 0.724 0.320 22 41620695 intron variant C/A;G snv 0.010 1.000 1 2015 2015
dbSNP: rs5751129
rs5751129
XRCC6 ; DESI1
14 0.752 0.320 22 41619761 intron variant C/T snv 0.69 0.010 1.000 1 2015 2015
dbSNP: rs5999749
rs5999749
MAPK1
3 0.925 0.080 22 21833371 intron variant A/C;T snv 0.010 1.000 1 2011 2011
dbSNP: rs74751600
rs74751600
CHEK2
3 22 28695852 missense variant T/C snv 0.010 1.000 1 2016 2016
dbSNP: rs776935407
rs776935407
SGSM3
6 0.851 0.080 22 40409261 missense variant T/A snv 4.1E-06 0.010 1.000 1 2011 2011
dbSNP: rs1202989817
rs1202989817
SOD1 ; LOC102724449
18 0.716 0.360 21 31659813 missense variant T/C;G snv 8.0E-06 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs3746444
rs3746444
MYH7B ; MIR499A ; MIR499B ; LOC107985393
105 0.514 0.760 20 34990448 mature miRNA variant A/G snv 0.20 0.19 0.020 0.500 2 2011 2015
dbSNP: rs121913495
rs121913495
GNAS
28 0.672 0.400 20 58909366 missense variant G/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs1569686
rs1569686
DNMT3B
15 0.752 0.400 20 32779273 intron variant G/A;C;T snv 0.010 1.000 1 2016 2016
dbSNP: rs2273535
rs2273535
AURKA
38 0.645 0.360 20 56386485 missense variant A/C;T snv 0.28 0.010 1.000 1 2007 2007
dbSNP: rs2423279
rs2423279 		10 0.790 0.080 20 7831703 downstream gene variant T/C snv 0.29 0.010 1.000 1 2019 2019
dbSNP: rs769394388
rs769394388
HNF4A ; LOC105372629
1 20 44355829 missense variant G/A;T snv 0.010 1.000 1 2011 2011
dbSNP: rs1799782
rs1799782
XRCC1
151 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 0.030 1.000 3 2003 2005
dbSNP: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.030 0.667 3 2004 2011
dbSNP: rs5498
rs5498
ICAM1 ; ICAM4
99 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 0.030 1.000 3 2013 2016
dbSNP: rs895819
rs895819
LOC284454 ; MIR23A ; MIR24-2 ; MIR27A
46 0.623 0.560 19 13836478 non coding transcript exon variant T/A;C;G snv 0.34 0.38 0.030 0.667 3 2012 2019
dbSNP: rs11615
rs11615
ERCC1
62 0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 0.010 1.000 1 2010 2010