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: rs17119461
rs17119461
LINC02627
1 1.000 0.040 10 105756594 intergenic variant T/C snv 7.7E-02 0.810 1.000 1 2012 2014
dbSNP: rs1801516
rs1801516
ATM
37 0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11 0.810 1.000 1 2011 2017
dbSNP: rs4698934
rs4698934
TET2 ; TET2-AS1
1 1.000 0.040 4 105218230 intron variant T/C snv 0.12 0.810 1.000 1 2014 2014
dbSNP: rs7023329
rs7023329
MTAP
8 0.790 0.160 9 21816529 intron variant A/G snv 0.50 0.810 1.000 1 2009 2017
dbSNP: rs910873
rs910873
PIGU
2 0.882 0.160 20 34583968 intron variant G/A;C snv 0.810 0.667 1 2008 2017
dbSNP: rs104894230
rs104894230
HRAS ; LRRC56
42 0.564 0.600 11 534288 missense variant C/A;G;T snv 0.710 1.000 1 2014 2016
dbSNP: rs1057519710
rs1057519710
KIT
22 0.695 0.280 4 54733166 missense variant G/C;T snv 0.710 1.000 1 1995 2013
dbSNP: rs1057519807
rs1057519807
MAP2K2
1 1.000 0.040 19 4110586 missense variant A/T snv 0.710 1.000 1 2014 2014
dbSNP: rs1057519808
rs1057519808
MAP2K2
2 1.000 0.040 19 4117543 missense variant T/G snv 0.710 1.000 1 2013 2014
dbSNP: rs1064794292
rs1064794292
CDKN2A
1 0.882 0.200 9 21974760 missense variant C/T snv 0.710 1.000 1 2009 2009
dbSNP: rs10757257
rs10757257
MTAP
3 0.882 0.080 9 21806565 intron variant G/A snv 0.34 0.710 1.000 1 2009 2012
dbSNP: rs121913248
rs121913248
NRAS
1 1.000 0.040 1 114716109 missense variant C/G;T snv 4.0E-06 0.710 1.000 1 2001 2014
dbSNP: rs121913355
rs121913355
BRAF
11 0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 0.710 1.000 1 2009 2014
dbSNP: rs121913368
rs121913368
BRAF
2 0.925 0.040 7 140753345 missense variant AG/GA mnv 0.710 1.000 1 2002 2018
dbSNP: rs121913375
rs121913375
BRAF
3 0.851 0.240 7 140753339 missense variant G/A;C snv 0.710 1.000 1 2014 2018
dbSNP: rs121913378
rs121913378
BRAF
6 0.776 0.280 7 140753337 missense variant C/A;G;T snv 0.710 1.000 1 2002 2014
dbSNP: rs132985
rs132985
PLA2G6
2 0.827 0.120 22 38167464 intron variant C/T snv 0.51 0.710 1.000 1 2009 2012
dbSNP: rs1335510
rs1335510
LOC107987026
1 1.000 0.040 9 21757804 intergenic variant T/G snv 0.32 0.710 1.000 1 2012 2015
dbSNP: rs187843643
rs187843643
LINC02218
1 1.000 0.040 5 17453974 intron variant C/T snv 3.9E-03 0.710 1.000 1 2017 2017
dbSNP: rs397514606
rs397514606
AKT3
13 0.763 0.320 1 243695714 missense variant C/T snv 0.710 1.000 1 2008 2008
dbSNP: rs4911414
rs4911414 		2 0.882 0.120 20 34141638 regulatory region variant T/G snv 0.73 0.710 1.000 1 2011 2013
dbSNP: rs1015362
rs1015362 		1 0.925 0.080 20 34150806 regulatory region variant C/T snv 0.42 0.010 1.000 1 2013 2013
dbSNP: rs1015363
rs1015363 		1 1.000 0.040 20 34150529 intergenic variant G/A snv 0.69 0.010 1.000 1 2013 2013
dbSNP: rs10231520
rs10231520
ABCB5
1 1.000 0.040 7 20742471 intron variant C/T snv 0.29 0.010 1.000 1 2013 2013
dbSNP: rs1034265990
rs1034265990
CDKN2A
2 0.925 0.120 9 21971123 missense variant G/A;T snv 4.4E-06 0.010 1.000 1 2019 2019