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: rs121913403
rs121913403
CTNNB1
23 0.683 0.240 3 41224622 missense variant C/A;G;T snv 0.700 1.000 7 1997 2004
dbSNP: rs121913407
rs121913407
CTNNB1
12 0.763 0.240 3 41224645 missense variant T/C;G snv 0.700 1.000 7 1997 2004
dbSNP: rs401681
rs401681
CLPTM1L
42 0.620 0.640 5 1321972 intron variant C/T snv 0.48 0.860 1.000 7 2010 2015
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: rs12203592
rs12203592
IRF4
38 0.649 0.320 6 396321 intron variant C/T snv 0.10 0.060 1.000 6 2010 2017
dbSNP: rs258322
rs258322
CDK10
3 0.925 0.120 16 89689495 intron variant A/G;T snv 0.800 1.000 6 2009 2017
dbSNP: rs104894098
rs104894098
CDKN2A
5 0.851 0.200 9 21970982 missense variant A/T snv 0.050 1.000 5 1999 2015
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: 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: rs7023329
rs7023329
MTAP
9 0.790 0.160 9 21816529 intron variant A/G snv 0.50 0.810 1.000 5 2009 2017
dbSNP: rs1393350
rs1393350
TYR ; LOC107984363
7 0.851 0.160 11 89277878 intron variant G/A snv 0.17 0.800 1.000 4 2009 2017
dbSNP: rs45430
rs45430
MX2
1 1.000 0.040 21 41374154 intron variant C/T snv 0.48 0.820 1.000 4 2011 2019
dbSNP: rs1057519708
rs1057519708
KIT
2 1.000 0.040 4 54728096 missense variant T/A;G snv 0.700 1.000 3 2011 2014
dbSNP: rs1057519718
rs1057519718
BRAF
2 0.925 0.160 7 140753355 missense variant CA/TC mnv 0.700 1.000 3 2002 2010
dbSNP: rs1057519732
rs1057519732
MAP2K1
6 0.827 0.160 15 66436824 missense variant C/A;T snv 0.700 1.000 3 2009 2012
dbSNP: rs1057519733
rs1057519733
MAP2K1
1 1.000 0.040 15 66481793 missense variant G/A snv 0.700 1.000 3 2009 2013
dbSNP: rs1057519853
rs1057519853
GNAQ
6 0.851 0.080 9 77794572 missense variant TG/AA mnv 0.030 1.000 3 2012 2018
dbSNP: rs121913337
rs121913337
BRAF
2 0.925 0.200 7 140753353 missense variant A/C;T snv 0.700 1.000 3 2002 2014
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: rs786204195
rs786204195
CDKN2A
4 0.851 0.200 9 21974686 missense variant G/A;T snv 0.030 0.667 3 2006 2008
dbSNP: rs910873
rs910873
PIGU
3 0.882 0.160 20 34583968 intron variant G/A;C snv 0.810 0.667 3 2008 2017
dbSNP: rs1024708183
rs1024708183
MAP2K7
4 0.925 0.040 19 7909761 missense variant A/G snv 0.020 1.000 2 2005 2015
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: rs1057519703
rs1057519703
KIT
1 1.000 0.040 4 54727418 missense variant A/C;T snv 0.700 1.000 2 2014 2014