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: rs1057519731
rs1057519731
MAP2K1
1 0.925 0.040 15 66436816 missense variant G/C snv 0.720 1.000 2 2011 2014
dbSNP: rs121913233
rs121913233
HRAS ; LRRC56
18 0.627 0.520 11 533874 missense variant T/A;C;G snv 0.720 1.000 2 2016 2018
dbSNP: rs121913250
rs121913250
NRAS
14 0.683 0.440 1 114716127 missense variant C/A;G;T snv 0.720 1.000 2 1989 2016
dbSNP: rs121913338
rs121913338
BRAF
14 0.677 0.400 7 140753354 missense variant T/A;C;G snv 0.720 1.000 2 1986 2019
dbSNP: rs121913364
rs121913364
BRAF
23 0.641 0.520 7 140753334 missense variant T/C;G snv 4.0E-06 0.720 1.000 2 2002 2016
dbSNP: rs121913366
rs121913366
BRAF
7 0.763 0.400 7 140753345 missense variant A/C;T snv 0.720 1.000 2 1989 2017
dbSNP: rs397516792
rs397516792
MAP2K1
1 0.827 0.280 15 66436825 missense variant C/A;G;T snv 0.720 1.000 2 2009 2015
dbSNP: rs4911442
rs4911442
NCOA6
1 1.000 0.040 20 34767243 intron variant G/A snv 0.93 0.720 1.000 2 2008 2014
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: rs397517132
rs397517132
EGFR
48 0.623 0.280 7 55191846 missense variant A/T snv 0.100 0.941 17 2011 2019