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: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.080 1.000 8 2010 2019
dbSNP: rs1040177874
rs1040177874
IDH1
2 0.925 0.040 2 208239914 missense variant G/A snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1801516
rs1801516
ATM
39 0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11 0.010 1.000 1 2008 2008
dbSNP: rs2271338
rs2271338
ADGRL3
5 0.827 0.080 4 61996533 intron variant G/A snv 0.26 0.010 1.000 1 2016 2016
dbSNP: rs2431689
rs2431689
MIR3142HG
3 0.882 0.040 5 160472115 intron variant G/A snv 0.17 0.010 1.000 1 2020 2020
dbSNP: rs3745601
rs3745601
P2RY11 ; PPAN-P2RY11
3 0.882 0.120 19 10113872 missense variant G/A snv 0.16 0.13 0.010 1.000 1 2014 2014
dbSNP: rs55832599
rs55832599
TP53
18 0.716 0.360 17 7673821 missense variant G/A snv 0.010 1.000 1 2002 2002
dbSNP: rs7115578
rs7115578
MAML2
3 0.882 0.040 11 96266936 intron variant G/A snv 0.37 0.010 1.000 1 2019 2019
dbSNP: rs766727892
rs766727892
TCF7L2
3 0.925 0.040 10 113151107 missense variant G/A snv 1.2E-05 7.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs861539
rs861539
KLC1 ; XRCC3
104 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 0.010 1.000 1 2012 2012
dbSNP: rs868162712
rs868162712
TCF4
3 0.925 0.040 18 55279598 missense variant G/A snv 0.010 1.000 1 2002 2002
dbSNP: rs121918464
rs121918464
PTPN11
25 0.708 0.440 12 112450406 missense variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs58064122
rs58064122
GFAP
3 0.882 0.160 17 44913334 missense variant G/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs770374782
rs770374782
TP53
6 0.851 0.160 17 7673752 missense variant G/A;C snv 1.2E-05 4.2E-05 0.010 1.000 1 2009 2009
dbSNP: rs867657798
rs867657798
TCF4
3 0.925 0.040 18 55631366 missense variant G/A;C snv 1.4E-05 0.010 1.000 1 2002 2002
dbSNP: rs121913499
rs121913499
IDH1
51 0.605 0.520 2 208248389 missense variant G/A;C;T snv 0.720 1.000 4 2009 2014
dbSNP: rs779707422
rs779707422
FGFR1
12 0.763 0.280 8 38417331 missense variant G/A;T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2005 2005
dbSNP: rs17522122
rs17522122
AKAP6
5 0.925 0.040 14 32833676 3 prime UTR variant G/T snv 0.41 0.010 1.000 1 2019 2019
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.010 1.000 1 2005 2005
dbSNP: rs1870377
rs1870377
KDR
25 0.695 0.520 4 55106807 missense variant T/A snv 0.22 0.20 0.010 1.000 1 2016 2016
dbSNP: rs9288516
rs9288516
XRCC5
6 0.827 0.120 2 216188541 intron variant T/A snv 5.0E-02 0.010 1.000 1 2016 2016
dbSNP: rs2853676
rs2853676
TERT
29 0.667 0.560 5 1288432 intron variant T/A;C snv 0.010 1.000 1 2013 2013
dbSNP: rs2297440
rs2297440
RTEL1 ; RTEL1-TNFRSF6B
10 0.763 0.080 20 63680946 intron variant T/C snv 0.81 0.020 1.000 2 2013 2015
dbSNP: rs1057519898
rs1057519898
FGFR1
5 0.851 0.120 8 38417333 missense variant T/C snv 0.700 1.000 1 2016 2016