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: rs140693
rs140693
MBD4
10 0.763 0.280 3 129436608 missense variant C/T snv 5.8E-02 3.1E-02 0.010 1.000 1 2006 2006
dbSNP: rs143752852
rs143752852
MST1R ; LOC102724438
1 3 49902723 missense variant A/G snv 8.8E-05 5.6E-05 0.010 1.000 1 2000 2000
dbSNP: rs17429138
rs17429138
LOC107986169
1 3 189527804 intergenic variant A/G snv 0.26 0.010 1.000 1 2011 2011
dbSNP: rs181696
rs181696
PLCH1
3 0.925 0.080 3 155548315 intron variant T/C snv 0.55 0.010 1.000 1 2013 2013
dbSNP: rs2229090
rs2229090
XPC
6 0.827 0.160 3 14145845 3 prime UTR variant G/C snv 0.25 0.22 0.010 1.000 1 2017 2017
dbSNP: rs4396880
rs4396880
TP63
1 3 189638432 intron variant G/A snv 0.34 0.010 1.000 1 2011 2011
dbSNP: rs746702110
rs746702110
OGG1
38 0.627 0.480 3 9756778 missense variant C/T snv 1.2E-05 2.8E-05 0.010 1.000 1 2005 2005
dbSNP: rs752021744
rs752021744
PIK3CB
29 0.689 0.440 3 138759306 missense variant T/C snv 1.2E-05 0.010 1.000 1 2012 2012
dbSNP: rs876658657
rs876658657
MLH1
25 0.677 0.280 3 37020356 missense variant A/G snv 4.0E-06 0.010 < 0.001 1 2004 2004
dbSNP: rs1397529
rs1397529
GAB1
4 0.882 0.080 4 143471009 3 prime UTR variant A/C;T snv 0.010 1.000 1 2017 2017
dbSNP: rs3114020
rs3114020
ABCG2
5 0.882 0.200 4 88162514 intron variant T/C snv 0.40 0.010 1.000 1 2017 2017
dbSNP: rs2736100
rs2736100
TERT
83 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 0.080 1.000 8 2009 2016
dbSNP: rs401681
rs401681
CLPTM1L
42 0.620 0.640 5 1321972 intron variant C/T snv 0.48 0.040 1.000 4 2013 2016
dbSNP: rs2736098
rs2736098
TERT
48 0.600 0.600 5 1293971 synonymous variant C/T snv 0.29 0.22 0.020 1.000 2 2013 2014
dbSNP: rs4975616
rs4975616 		12 0.763 0.320 5 1315545 downstream gene variant G/A snv 0.51 0.020 1.000 2 2010 2013
dbSNP: rs11134527
rs11134527
SLIT3 ; MIR218-2
24 0.677 0.400 5 168768351 intron variant G/A snv 0.25 0.010 1.000 1 2018 2018
dbSNP: rs112290073
rs112290073
TERT
4 0.882 0.080 5 1285917 intron variant G/A snv 7.8E-03 0.010 1.000 1 2016 2016
dbSNP: rs138895564
rs138895564
TERT
4 0.882 0.080 5 1271959 intron variant C/T snv 5.1E-03 0.010 1.000 1 2016 2016
dbSNP: rs139852726
rs139852726
LPCAT1
4 0.882 0.080 5 1462734 3 prime UTR variant G/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs199905033
rs199905033
IL6ST
4 0.882 0.080 5 55964205 missense variant G/C snv 0.010 1.000 1 2015 2015
dbSNP: rs2853669
rs2853669
TERT
35 0.649 0.320 5 1295234 upstream gene variant A/G snv 0.25 0.010 1.000 1 2015 2015
dbSNP: rs2853676
rs2853676
TERT
29 0.667 0.560 5 1288432 intron variant T/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs2853677
rs2853677
TERT
19 0.724 0.240 5 1287079 3 prime UTR variant G/A snv 0.63 0.010 1.000 1 2016 2016
dbSNP: rs2910164
rs2910164
MIR146A ; MIR3142HG
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.010 1.000 1 2018 2018
dbSNP: rs3212227
rs3212227
IL12B
65 0.566 0.840 5 159315942 3 prime UTR variant T/G snv 0.26 0.010 1.000 1 2015 2015