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: rs121913315
rs121913315
STK11
5 0.882 0.160 19 1220488 missense variant G/A;T snv 0.800 1.000 1 1999 1999
dbSNP: rs13097028
rs13097028 		1 1.000 0.040 3 169747154 regulatory region variant C/T snv 0.38 0.800 1.000 1 2014 2014
dbSNP: rs35390
rs35390
SLC45A2
1 1.000 0.040 5 33955221 intron variant C/A snv 0.81 0.800 1.000 1 2011 2011
dbSNP: rs121909233
rs121909233
PTEN ; KLLN
2 1.000 0.040 10 87864524 missense variant G/A snv 0.800 0
dbSNP: rs121909234
rs121909234
PTEN
1 1.000 0.040 10 87957867 missense variant G/A snv 0.800 0
dbSNP: rs137853080
rs137853080
STK11
2 1.000 0.040 19 1207058 missense variant T/G snv 0.800 0
dbSNP: rs137853081
rs137853081
STK11
2 1.000 0.040 19 1219352 missense variant G/C;T snv 0.800 0
dbSNP: rs121913254
rs121913254
NRAS
31 0.658 0.440 1 114713909 stop gained G/A;C;T snv 0.780 1.000 21 1989 2016
dbSNP: rs121913513
rs121913513
KIT
10 0.776 0.120 4 54727495 missense variant T/C snv 0.760 1.000 17 1995 2016
dbSNP: rs1057519742
rs1057519742
GNA11
7 0.827 0.160 19 3118944 missense variant A/C;T snv 0.750 1.000 9 1989 2018
dbSNP: rs16891982
rs16891982
SLC45A2
13 0.776 0.200 5 33951588 missense variant C/A;G snv 0.65 0.750 0.833 6 2008 2017
dbSNP: rs104894097
rs104894097
CDKN2A
8 0.807 0.240 9 21974757 missense variant C/A;G;T snv 1.7E-05; 1.3E-05 0.750 1.000 5 1995 2015
dbSNP: rs121913492
rs121913492
GNAQ
11 0.790 0.160 9 77794572 missense variant T/A;C;G snv 0.740 1.000 12 1989 2018
dbSNP: rs121913237
rs121913237
NRAS
50 0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06 0.740 1.000 11 1989 2016
dbSNP: rs104894340
rs104894340
CDK4
5 0.827 0.200 12 57751647 missense variant C/A;T snv 0.740 0.600 5 2003 2014
dbSNP: rs1126809
rs1126809
TYR ; LOC107984363
29 0.683 0.320 11 89284793 missense variant G/A snv 0.18 0.18 0.730 1.000 4 2008 2014
dbSNP: rs121913366
rs121913366
BRAF
12 0.763 0.400 7 140753345 missense variant A/C;T snv 0.720 1.000 14 1989 2017
dbSNP: rs121913250
rs121913250
NRAS
25 0.683 0.440 1 114716127 missense variant C/A;G;T snv 0.720 1.000 10 1989 2016
dbSNP: rs121913364
rs121913364
BRAF
34 0.641 0.520 7 140753334 missense variant T/C;G snv 4.0E-06 0.720 1.000 9 2002 2016
dbSNP: rs121913338
rs121913338
BRAF
24 0.677 0.400 7 140753354 missense variant T/A;C;G snv 0.720 1.000 6 1986 2019
dbSNP: rs1057519731
rs1057519731
MAP2K1
2 0.925 0.040 15 66436816 missense variant G/C snv 0.720 1.000 5 2011 2014
dbSNP: rs397516792
rs397516792
MAP2K1
6 0.827 0.280 15 66436825 missense variant C/A;G;T snv 0.720 1.000 5 2009 2015
dbSNP: rs4911442
rs4911442
NCOA6
2 1.000 0.040 20 34767243 intron variant G/A snv 0.93 0.720 1.000 3 2008 2014
dbSNP: rs121913233
rs121913233
HRAS ; LRRC56
37 0.627 0.520 11 533874 missense variant T/A;C;G snv 0.720 1.000 2 2016 2018
dbSNP: rs121913378
rs121913378
BRAF
11 0.776 0.280 7 140753337 missense variant C/A;G;T snv 0.710 1.000 15 2002 2014