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: rs11614913
rs11614913
HOXC6 ; MIR196A2
111 0.512 0.760 12 53991815 mature miRNA variant C/T snv 0.39 0.34 0.040 0.750 4 2011 2017
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 1.000 2 2015 2017
dbSNP: rs1046778
rs1046778
AS3MT ; BORCS7-ASMT ; LOC107984265
4 0.851 0.160 10 102901727 3 prime UTR variant T/C snv 0.30 0.020 1.000 2 2018 2018
dbSNP: rs2736100
rs2736100
TERT
83 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 0.020 1.000 2 2011 2013
dbSNP: rs3025039
rs3025039
VEGFA
62 0.576 0.720 6 43784799 3 prime UTR variant C/T snv 0.13 0.020 1.000 2 2019 2019
dbSNP: rs1063054
rs1063054
OSGIN2 ; NBN
6 0.807 0.160 8 89934373 3 prime UTR variant T/G snv 0.32 0.010 1.000 1 2010 2010
dbSNP: rs1063192
rs1063192
CDKN2B ; CDKN2B-AS1
24 0.695 0.520 9 22003368 3 prime UTR variant G/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs10719
rs10719
DROSHA
24 0.677 0.680 5 31401340 3 prime UTR variant A/G;T snv 0.69 0.010 1.000 1 2013 2013
dbSNP: rs10759
rs10759
RGS4
4 0.851 0.160 1 163076561 3 prime UTR variant G/A;T snv 0.010 1.000 1 2013 2013
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: rs2155209
rs2155209
MRE11
10 0.776 0.240 11 94417624 3 prime UTR variant T/C snv 0.27 0.010 1.000 1 2008 2008
dbSNP: rs2976392
rs2976392
PSCA ; JRK
15 0.724 0.240 8 142681514 3 prime UTR variant G/A snv 0.46 0.45 0.010 1.000 1 2019 2019
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 2014 2014
dbSNP: rs3242
rs3242
SFRP1
4 0.851 0.160 8 41262035 3 prime UTR variant G/A;C snv 0.010 1.000 1 2013 2013
dbSNP: rs35592567
rs35592567
TP63
6 0.827 0.160 3 189896847 3 prime UTR variant C/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs4143815
rs4143815
CD274
20 0.689 0.400 9 5468257 3 prime UTR variant G/C snv 0.23 0.010 1.000 1 2019 2019
dbSNP: rs56228771
rs56228771
SGSM3 ; MRTFA
5 0.827 0.200 22 40410091 3 prime UTR variant -/GTCT;GTCTGTCT delins 0.010 1.000 1 2018 2018
dbSNP: rs72552316
rs72552316
TLR7
3 0.882 0.120 X 12889591 3 prime UTR variant T/C snv 0.010 1.000 1 2014 2014
dbSNP: rs7431
rs7431
PPP3CC
3 0.882 0.120 8 22540949 3 prime UTR variant G/A snv 0.56 0.010 1.000 1 2018 2018
dbSNP: rs77191406
rs77191406
TNFAIP3
12 0.790 0.280 6 137881704 3 prime UTR variant C/T snv 7.2E-04 0.010 1.000 1 2016 2016
dbSNP: rs8444
rs8444
CERS2
3 0.882 0.120 1 150966095 3 prime UTR variant G/A snv 0.35 0.010 1.000 1 2019 2019
dbSNP: rs861530
rs861530
KLC1 ; XRCC3 ; LOC112268131
13 0.732 0.320 14 103707786 3 prime UTR variant T/C snv 0.65 0.010 1.000 1 2016 2016
dbSNP: rs861531
rs861531
KLC1 ; XRCC3 ; LOC112268131
3 0.882 0.120 14 103706470 3 prime UTR variant C/A snv 0.32 0.010 1.000 1 2016 2016
dbSNP: rs8679
rs8679
PARP1
7 0.790 0.200 1 226360853 3 prime UTR variant A/G snv 0.16 0.010 1.000 1 2012 2012
dbSNP: rs9034
rs9034
NAMPT
5 0.827 0.200 7 106249610 3 prime UTR variant A/G;T snv 0.010 1.000 1 2014 2014