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: 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: rs10069690
rs10069690
TERT
53 0.595 0.560 5 1279675 intron variant C/T snv 0.36 0.700 1.000 3 2015 2018
dbSNP: rs10116277
rs10116277
CDKN2B-AS1
8 0.827 0.160 9 22081398 intron variant G/T snv 0.62 0.700 1.000 1 2011 2011
dbSNP: rs10120688
rs10120688
CDKN2B-AS1
7 0.807 0.080 9 22056500 intron variant G/A snv 0.50 0.700 1.000 1 2011 2011
dbSNP: rs10131
rs10131
LIG4
3 1.000 0.040 13 108207498 3 prime UTR variant C/T snv 0.12 0.020 1.000 2 2015 2016
dbSNP: rs10131032
rs10131032
AKAP6
2 1.000 0.040 14 32780875 intron variant G/A snv 9.3E-02 0.700 1.000 1 2017 2017
dbSNP: rs10165970
rs10165970
NPAS2
18 0.708 0.320 2 100840527 intron variant G/A snv 0.16 0.010 1.000 1 2017 2017
dbSNP: rs1034749666
rs1034749666
OLIG2
9 0.776 0.160 21 33027257 missense variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.080 0.625 8 2008 2018
dbSNP: rs1044129
rs1044129
RYR3 ; AVEN
9 0.790 0.200 15 33866065 3 prime UTR variant A/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1045485
rs1045485
CASP8
34 0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02 0.020 1.000 2 2008 2016
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 < 0.001 1 2005 2005
dbSNP: rs10464870
rs10464870
CCDC26
3 0.882 0.040 8 129465577 intron variant C/T snv 0.80 0.700 1.000 2 2009 2011
dbSNP: rs1048771
rs1048771
RAD54L ; LRRC41
1 1.000 0.040 1 46278228 synonymous variant C/A;T snv 4.0E-06; 0.15 0.010 1.000 1 2016 2016
dbSNP: rs104894104
rs104894104
CDKN2A
7 0.790 0.160 9 21971019 missense variant G/A;T snv 0.010 1.000 1 1997 1997
dbSNP: rs104894156
rs104894156
DMBT1
1 1.000 0.040 10 122582793 missense variant G/T snv 0.700 0
dbSNP: rs1049353
rs1049353
CNR1
42 0.630 0.600 6 88143916 synonymous variant C/T snv 0.21 0.20 0.010 1.000 1 2010 2010
dbSNP: rs10494090
rs10494090
SLC25A24
2 1.000 0.040 1 108150714 intron variant A/C;G;T snv 0.700 1.000 1 2009 2009
dbSNP: rs10506868
rs10506868
VTI1A
16 0.716 0.160 10 112559621 intron variant C/T snv 3.1E-02 0.010 1.000 1 2018 2018
dbSNP: rs10519097
rs10519097
RORA
18 0.708 0.320 15 60997989 intron variant C/T snv 0.13 0.010 1.000 1 2017 2017
dbSNP: rs1052555
rs1052555
ERCC2
3 0.882 0.040 19 45352266 synonymous variant G/A snv 0.28 0.26 0.010 < 0.001 1 2014 2014
dbSNP: rs1052576
rs1052576
CASP9
9 0.807 0.200 1 15506048 missense variant T/A;C snv 0.53 0.010 1.000 1 2017 2017
dbSNP: rs1053667
rs1053667
TOGARAM1
4 0.925 0.120 14 45073835 3 prime UTR variant T/C snv 0.11 0.010 1.000 1 2019 2019
dbSNP: rs1057519902
rs1057519902
H3-3A
16 0.742 0.160 1 226064451 missense variant G/C snv 0.010 1.000 1 2019 2019
dbSNP: rs1057519903
rs1057519903
H3-3A
28 0.683 0.080 1 226064434 missense variant A/T snv 0.050 0.800 5 2016 2020