Source: BEFREE ×
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: rs113488022
rs113488022
BRAF
484 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.800 1.000 18 2011 2019
dbSNP: rs121913500
rs121913500
IDH1
83 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.790 1.000 9 2010 2018
dbSNP: rs121913343
rs121913343
TP53
20 0.611 0.520 17 7673803 missense variant G/A;C;T snv 1.2E-05 0.710 1.000 1 2014 2016
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 1.000 18 2011 2019
dbSNP: rs121913529
rs121913529
KRAS
135 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 0.030 1.000 3 2014 2017
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.020 1.000 2 2005 2009
dbSNP: rs104894230
rs104894230
HRAS ; LRRC56
42 0.564 0.600 11 534288 missense variant C/A;G;T snv 0.020 1.000 2 2015 2017
dbSNP: rs1057519903
rs1057519903
H3-3A
26 0.683 0.080 1 226064434 missense variant A/T snv 0.020 0.500 2 2018 2019
dbSNP: rs1131691014
rs1131691014
TP53
213 0.439 0.800 17 7676154 frameshift variant -/C ins 0.020 1.000 2 2005 2009
dbSNP: rs1136410
rs1136410
PARP1
70 0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15 0.020 1.000 2 2016 2019
dbSNP: rs118101777
rs118101777
IDH2
42 0.614 0.280 15 90087472 missense variant C/T snv 2.0E-03 1.6E-03 0.020 1.000 2 2011 2017
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 1.000 2 2012 2013
dbSNP: rs1695
rs1695
GSTP1
187 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.020 1.000 2 2005 2016
dbSNP: rs1801516
rs1801516
ATM
37 0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11 0.020 1.000 2 2011 2015
dbSNP: rs1872328
rs1872328
ACYP2
6 0.827 0.120 2 54168122 intron variant G/A snv 7.3E-02 0.020 1.000 2 2015 2016
dbSNP: rs2243115
rs2243115
IL12A ; IL12A-AS1
12 0.776 0.320 3 159988493 intron variant T/G snv 0.10 0.020 1.000 2 2012 2017
dbSNP: rs55819519
rs55819519
TP53
40 0.627 0.400 17 7673751 missense variant C/A;G;T snv 1.6E-04 1.3E-04 0.020 1.000 2 2011 2013
dbSNP: rs727503094
rs727503094
HRAS ; LRRC56
41 0.633 0.440 11 534287 missense variant GC/AG;AT;TA;TT mnv 0.020 1.000 2 2015 2017
dbSNP: rs861539
rs861539
KLC1 ; XRCC3
103 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 0.020 1.000 2 2008 2014
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.020 1.000 2 2005 2009
dbSNP: rs104894229
rs104894229
HRAS ; LRRC56
23 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs1048943
rs1048943
CYP1A1
88 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 0.010 1.000 1 2013 2013
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: rs1057519904
rs1057519904
H3C11
14 0.742 0.080 6 27872233 missense variant T/A snv 0.010 1.000 1 2019 2019
dbSNP: rs11554137
rs11554137
IDH1
13 0.742 0.040 2 208248468 synonymous variant G/A snv 5.1E-02 6.8E-02 0.010 1.000 1 2018 2018