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: rs121913368
rs121913368
BRAF
2 0.925 0.040 7 140753345 missense variant AG/GA mnv 0.710 1.000 13 2002 2018
dbSNP: rs1057519710
rs1057519710
KIT
22 0.695 0.280 4 54733166 missense variant G/C;T snv 0.710 1.000 10 1995 2013
dbSNP: rs121913248
rs121913248
NRAS
1 1.000 0.040 1 114716109 missense variant C/G;T snv 4.0E-06 0.710 1.000 3 2001 2014
dbSNP: rs104894230
rs104894230
HRAS ; LRRC56
73 0.564 0.600 11 534288 missense variant C/A;G;T snv 0.710 1.000 2 2014 2016
dbSNP: rs1057519807
rs1057519807
MAP2K2
1 1.000 0.040 19 4110586 missense variant A/T snv 0.710 1.000 2 2014 2014
dbSNP: rs1057519808
rs1057519808
MAP2K2
2 1.000 0.040 19 4117543 missense variant T/G snv 0.710 1.000 2 2013 2014
dbSNP: rs10757257
rs10757257
MTAP
3 0.882 0.080 9 21806565 intron variant G/A snv 0.34 0.710 1.000 2 2009 2012
dbSNP: rs121913355
rs121913355
BRAF
42 0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 0.710 1.000 2 2009 2014
dbSNP: rs121913375
rs121913375
BRAF
7 0.851 0.240 7 140753339 missense variant G/A;C snv 0.710 1.000 2 2014 2018
dbSNP: rs132985
rs132985
PLA2G6
5 0.827 0.120 22 38167464 intron variant C/T snv 0.51 0.710 1.000 2 2009 2012
dbSNP: rs1335510
rs1335510
LOC107987026
1 1.000 0.040 9 21757804 intergenic variant T/G snv 0.32 0.710 1.000 2 2012 2015
dbSNP: rs4911414
rs4911414 		5 0.882 0.120 20 34141638 regulatory region variant T/G snv 0.73 0.710 1.000 2 2011 2013
dbSNP: rs1064794292
rs1064794292
CDKN2A
3 0.882 0.200 9 21974760 missense variant C/T snv 0.710 1.000 1 2009 2009
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
14 0.763 0.320 1 243695714 missense variant C/T snv 0.710 1.000 1 2008 2008
dbSNP: rs121913517
rs121913517
KIT
6 0.851 0.120 4 54727444 missense variant T/A;C;G snv 0.700 1.000 18 1995 2014
dbSNP: rs121913235
rs121913235
KIT
3 0.925 0.080 4 54727437 missense variant T/A;C;G snv 0.700 1.000 14 1995 2012
dbSNP: rs121913255
rs121913255
NRAS
26 0.667 0.400 1 114713907 missense variant T/A;G snv 0.700 1.000 13 1989 2014
dbSNP: rs121913369
rs121913369
BRAF
12 0.790 0.280 7 140753346 missense variant G/A;C snv 4.0E-06 0.700 1.000 12 2002 2014
dbSNP: rs121434596
rs121434596
NRAS
26 0.677 0.440 1 114716123 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 0.700 1.000 10 1989 2014
dbSNP: rs121434595
rs121434595
NRAS
19 0.708 0.320 1 114716124 missense variant C/A;G;T snv 0.700 1.000 9 1989 2014
dbSNP: rs121913512
rs121913512
KIT
9 0.851 0.120 4 54728055 missense variant A/C;G snv 0.700 1.000 9 1995 2011
dbSNP: rs121913409
rs121913409
CTNNB1
21 0.708 0.400 3 41224646 missense variant C/A;G;T snv 0.700 1.000 8 1997 2014
dbSNP: rs121913506
rs121913506
KIT
24 0.677 0.320 4 54733154 missense variant G/A;C;T snv 0.700 1.000 8 1995 2011
dbSNP: rs121913403
rs121913403
CTNNB1
23 0.683 0.240 3 41224622 missense variant C/A;G;T snv 0.700 1.000 7 1997 2004