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: rs3027898
rs3027898
IRAK1
11 0.752 0.360 X 154010439 downstream gene variant C/A snv 0.010 1.000 1 2020 2020
dbSNP: rs944289
rs944289 		16 0.742 0.200 14 36180040 upstream gene variant C/T snv 0.45 0.100 0.833 12 2010 2019
dbSNP: rs10741657
rs10741657
CYP2R1
34 0.637 0.520 11 14893332 upstream gene variant A/G snv 0.65 0.010 1.000 1 2012 2012
dbSNP: rs1420106
rs1420106
IL18RAP
5 0.851 0.200 2 102418584 upstream gene variant A/G snv 0.78 0.010 1.000 1 2015 2015
dbSNP: rs1755787
rs1755787 		1 1.000 0.080 14 36235879 upstream gene variant A/T snv 0.26 0.010 1.000 1 2019 2019
dbSNP: rs2227485
rs2227485
IL22 ; LOC105369818
5 0.882 0.120 12 68253933 upstream gene variant G/A snv 0.53 0.010 1.000 1 2013 2013
dbSNP: rs2735943
rs2735943
TERT
1 1.000 0.080 5 1295089 upstream gene variant G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs3828610
rs3828610
PDGFRB
3 0.882 0.160 5 150156062 upstream gene variant A/C snv 0.49 0.010 < 0.001 1 2012 2012
dbSNP: rs4819554
rs4819554
IL17RA
10 0.776 0.320 22 17084145 upstream gene variant G/A snv 0.84 0.010 1.000 1 2015 2015
dbSNP: rs6464149
rs6464149
BRAF ; LOC105375536
1 1.000 0.080 7 140926036 upstream gene variant A/C snv 0.12 0.010 1.000 1 2019 2019
dbSNP: rs7810757
rs7810757
BRAF ; LOC105375536
1 1.000 0.080 7 140925302 upstream gene variant T/C snv 0.15 0.010 1.000 1 2019 2019
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.030 1.000 3 2009 2016
dbSNP: rs1319984849
rs1319984849
EZH1
1 1.000 0.080 17 42727721 frameshift variant G/- delins 0.010 1.000 1 2019 2019
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 0.040 0.750 4 2008 2018
dbSNP: rs4919510
rs4919510
SEMA4G ; MRPL43 ; MIR608
32 0.641 0.520 10 100975021 mature miRNA variant C/G snv 0.27 0.27 0.030 1.000 3 2015 2018
dbSNP: rs67106263
rs67106263
MIR3144
1 1.000 0.080 6 120015238 mature miRNA variant G/A snv 0.23 0.22 0.010 1.000 1 2015 2015
dbSNP: rs79402775
rs79402775
ATF2 ; MIR933
5 0.827 0.200 2 175167648 mature miRNA variant G/A;T snv 4.4E-02; 1.0E-05 0.010 1.000 1 2015 2015
dbSNP: rs2736100
rs2736100
TERT
83 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 0.030 1.000 3 2016 2019
dbSNP: rs10434
rs10434
VEGFA
17 0.701 0.480 6 43785475 3 prime UTR variant A/G snv 0.59 0.010 1.000 1 2017 2017
dbSNP: rs1443434
rs1443434
FOXE1
4 0.851 0.080 9 97855197 3 prime UTR variant G/T snv 0.63 0.010 1.000 1 2017 2017
dbSNP: rs1468063
rs1468063
FAS
6 0.851 0.200 10 89015534 3 prime UTR variant C/T snv 0.17 0.17 0.010 1.000 1 2015 2015
dbSNP: rs2288496
rs2288496
TSHR ; LOC101928462
2 0.925 0.120 14 81145770 3 prime UTR variant T/C snv 0.39 0.010 1.000 1 2019 2019
dbSNP: rs3025040
rs3025040
VEGFA
3 0.882 0.120 6 43785314 3 prime UTR variant C/T snv 0.15 0.010 1.000 1 2017 2017
dbSNP: rs3737787
rs3737787
USF1 ; TSTD1
11 0.763 0.280 1 161039733 3 prime UTR variant G/A snv 0.21 0.010 1.000 1 2016 2016
dbSNP: rs3783553
rs3783553
IL1A
26 0.667 0.480 2 112774138 3 prime UTR variant -/TGAA delins 0.010 1.000 1 2014 2014