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: rs8305
rs8305
POLI
4 0.882 0.120 18 54294435 missense variant G/A snv 0.72 0.78 0.010 1.000 1 2005 2005
dbSNP: rs586339
rs586339
KDM4A
2 1.000 0.080 1 43671586 missense variant C/A;G;T snv 0.70 0.78 0.010 1.000 1 2017 2017
dbSNP: rs2564978
rs2564978
CD55
6 0.827 0.080 1 207321071 upstream gene variant T/C snv 0.77 0.010 1.000 1 2017 2017
dbSNP: rs3787728
rs3787728
CBR1 ; SETD4 ; LOC100133286
5 0.851 0.080 21 36071595 intron variant T/C snv 0.74 0.010 < 0.001 1 2017 2017
dbSNP: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.020 1.000 2 2005 2010
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: rs4844880
rs4844880
HSD11B1 ; HSD11B1-AS1
4 0.882 0.240 1 209697571 intron variant A/T snv 0.70 0.010 1.000 1 2015 2015
dbSNP: rs1340420
rs1340420
TNKS2
3 0.925 0.080 10 91857549 intron variant A/G snv 0.71 0.70 0.010 1.000 1 2015 2015
dbSNP: rs2239704
rs2239704
LTA ; LOC100287329
17 0.732 0.320 6 31572364 5 prime UTR variant A/C snv 0.64 0.010 1.000 1 2013 2013
dbSNP: rs4977756
rs4977756
CDKN2B-AS1
24 0.683 0.440 9 22068653 intron variant G/A snv 0.64 0.010 1.000 1 2014 2014
dbSNP: rs2835267
rs2835267
SETD4 ; LOC100133286
6 0.827 0.080 21 36074727 intron variant T/C snv 0.63 0.010 < 0.001 1 2017 2017
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: rs3087386
rs3087386
REV1
8 0.790 0.160 2 99439044 missense variant A/G snv 0.58 0.61 0.010 1.000 1 2008 2008
dbSNP: rs3811047
rs3811047
IL37
10 0.807 0.400 2 112913833 missense variant A/G snv 0.71 0.60 0.010 1.000 1 2014 2014
dbSNP: rs1989969
rs1989969
VDR
8 0.827 0.120 12 47884227 intron variant A/C;G;T snv 0.60 0.010 1.000 1 2017 2017
dbSNP: rs7309332
rs7309332 		3 1.000 0.040 12 7938243 upstream gene variant T/C snv 0.59 0.010 1.000 1 2019 2019
dbSNP: rs8038415
rs8038415
IGF1R
1 15 98956205 intron variant T/C snv 0.58 0.010 1.000 1 2014 2014
dbSNP: rs736775
rs736775
TNIP1
1 5 151029787 downstream gene variant T/C snv 0.56 0.010 1.000 1 2018 2018
dbSNP: rs2070803
rs2070803
TRIM46
5 0.925 0.080 1 155185239 intron variant G/A snv 0.55 0.010 1.000 1 2017 2017
dbSNP: rs2228059
rs2228059
IL15RA ; LOC107984200
5 0.882 0.080 10 5960405 missense variant T/G snv 0.51 0.55 0.010 1.000 1 2014 2014
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: 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: 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: rs3660
rs3660
KRT81 ; KRT86
6 0.882 0.160 12 52286153 3 prime UTR variant C/G snv 0.51 0.010 1.000 1 2011 2011
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