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: rs1346787
rs1346787
EFEMP1 ; LOC112268416
3 0.882 0.040 2 55865477 downstream gene variant C/A;G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs9933544
rs9933544 		3 0.882 0.040 16 24576962 downstream gene variant A/C snv 0.29 0.010 1.000 1 2014 2014
dbSNP: rs1005230
rs1005230
VEGFA
5 0.827 0.040 6 43768759 upstream gene variant T/C snv 0.60 0.010 1.000 1 2018 2018
dbSNP: rs2234248
rs2234248
TREM2 ; LOC105375056
5 0.827 0.040 6 41163980 upstream gene variant A/G snv 2.2E-03 0.010 1.000 1 2015 2015
dbSNP: rs2243248
rs2243248
IL4
9 0.763 0.240 5 132672952 upstream gene variant T/A;C;G snv 0.010 1.000 1 2013 2013
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: rs3788266
rs3788266
S100B
12 0.732 0.160 21 46606442 upstream gene variant G/A snv 0.50 0.010 1.000 1 2011 2011
dbSNP: rs833061
rs833061
VEGFA
42 0.605 0.600 6 43769749 upstream gene variant C/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2013 2013
dbSNP: rs1135401891
rs1135401891
BRCA2
7 0.790 0.280 13 32332796 frameshift variant -/CT ins 0.010 1.000 1 2018 2018
dbSNP: rs764803020
rs764803020
TP53
5 0.851 0.040 17 7673750 frameshift variant -/TTTCCGCCGG delins 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs1567176006
rs1567176006
SLX4
1 1.000 0.040 16 3602208 frameshift variant CT/- del 0.700 0
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 2015 2015
dbSNP: rs78378222
rs78378222
TP53
37 0.662 0.360 17 7668434 3 prime UTR variant T/G snv 8.3E-03 0.710 1.000 3 2013 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 2015
dbSNP: rs11515
rs11515
CDKN2A ; CDKN2A-DT
6 0.882 0.040 9 21968200 3 prime UTR variant C/A;G snv 4.0E-06; 0.88 0.010 1.000 1 2011 2011
dbSNP: rs11558961
rs11558961
GFAP
2 0.925 0.040 17 44907319 3 prime UTR variant G/C;T snv 0.27; 1.2E-05 0.010 1.000 1 2018 2018
dbSNP: rs17748
rs17748
TREH ; PHLDB1
5 0.827 0.080 11 118657714 3 prime UTR variant C/T snv 0.18 0.010 1.000 1 2015 2015
dbSNP: rs3829382
rs3829382
FLT3
2 0.925 0.040 13 28003551 3 prime UTR variant G/T snv 0.46 0.010 1.000 1 2013 2013
dbSNP: rs1801320
rs1801320
RAD51 ; RAD51-AS1
15 0.742 0.160 15 40695330 5 prime UTR variant G/C snv 0.12 0.020 1.000 2 2016 2018
dbSNP: rs2010963
rs2010963
VEGFA
82 0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68 0.020 1.000 2 2015 2018
dbSNP: rs498872
rs498872
PHLDB1
10 0.776 0.240 11 118606652 5 prime UTR variant A/G;T snv 0.020 1.000 2 2011 2015
dbSNP: rs1205454520
rs1205454520
PTEN ; KLLN
10 0.763 0.120 10 87864059 5 prime UTR variant -/G delins 7.2E-06 0.010 < 0.001 1 2007 2007
dbSNP: rs12885300
rs12885300
DIO2 ; DIO2-AS1
7 0.790 0.200 14 80211923 5 prime UTR variant C/A;G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1800734
rs1800734
MLH1 ; EPM2AIP1
30 0.653 0.400 3 36993455 5 prime UTR variant G/A snv 0.22 0.010 1.000 1 2014 2014