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: rs121912660
rs121912660
TP53
26 0.683 0.240 17 7673781 missense variant C/A;G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 1.000 19 2011 2020
dbSNP: rs121913499
rs121913499
IDH1
51 0.605 0.520 2 208248389 missense variant G/A;C;T snv 0.720 1.000 2 2011 2012
dbSNP: rs121913500
rs121913500
IDH1
96 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.800 1.000 49 2009 2019
dbSNP: rs12230172
rs12230172
LOC105369844
4 0.882 0.040 12 75848895 intron variant A/G snv 0.48 0.700 1.000 1 2015 2015
dbSNP: rs12241008
rs12241008
VTI1A
16 0.716 0.160 10 112520943 intron variant T/C snv 0.13 0.010 1.000 1 2018 2018
dbSNP: rs12433985
rs12433985
SLC7A7
1 1.000 0.040 14 22780330 non coding transcript exon variant A/G snv 0.36 0.010 1.000 1 2013 2013
dbSNP: rs12436190
rs12436190
SLC7A7
1 1.000 0.040 14 22788107 intron variant A/G snv 0.30 0.010 1.000 1 2017 2017
dbSNP: rs12544799
rs12544799
CCDC26
1 1.000 0.040 8 129651264 intron variant A/G snv 0.34 0.700 1.000 1 2011 2011
dbSNP: rs12615793
rs12615793
ACYP2
4 0.851 0.280 2 54248777 intron variant G/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs12718945
rs12718945
EGFR
1 1.000 0.040 7 55125270 intron variant T/G snv 0.51 0.010 < 0.001 1 2017 2017
dbSNP: rs12723208
rs12723208
TRAF5
2 1.000 0.040 1 211337552 intron variant A/G snv 0.13 0.700 1.000 1 2009 2009
dbSNP: rs1273593548
rs1273593548
PIK3CG
19 0.716 0.160 7 106867593 missense variant T/G snv 8.4E-06 0.010 1.000 1 2017 2017
dbSNP: rs12752552
rs12752552
RAVER2
4 0.882 0.040 1 64763616 intron variant T/C snv 0.13 0.700 1.000 2 2017 2018
dbSNP: rs1275600
rs1275600
LOC105369844
2 1.000 0.040 12 75869771 intron variant T/A snv 0.47 0.700 1.000 1 2017 2017
dbSNP: rs12803321
rs12803321
PHLDB1
2 1.000 0.040 11 118609400 intron variant G/C;T snv 0.700 1.000 3 2015 2018
dbSNP: rs12826786
rs12826786 		26 0.683 0.480 12 53961717 upstream gene variant C/T snv 0.38 0.010 < 0.001 1 2017 2017
dbSNP: rs12888930
rs12888930
SLC7A7
1 1.000 0.040 14 22779374 intron variant C/T snv 0.32 0.010 < 0.001 1 2017 2017
dbSNP: rs12917
rs12917
MGMT ; LOC105378560
45 0.605 0.480 10 129708019 missense variant C/T snv 0.14 0.14 0.040 1.000 4 2009 2018
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.100 1.000 11 2005 2017
dbSNP: rs13332653
rs13332653 		3 0.882 0.040 16 24578078 intergenic variant T/G snv 0.11 0.010 1.000 1 2014 2014
dbSNP: rs13361189
rs13361189 		13 0.752 0.240 5 150843825 upstream gene variant T/C snv 0.21 0.010 1.000 1 2014 2014
dbSNP: rs1336268032
rs1336268032
SOD2
1 1.000 0.040 6 159692718 missense variant C/T snv 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs1339499
rs1339499
MAPKAP1
1 1.000 0.040 9 125644174 intron variant T/C snv 0.29 0.010 1.000 1 2019 2019
dbSNP: rs1344733
rs1344733
EFEMP1
1 1.000 0.040 2 55900892 intron variant T/C snv 0.41 0.010 1.000 1 2015 2015