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: 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: rs1057519742
rs1057519742
GNA11
7 0.827 0.160 19 3118944 missense variant A/C;T snv 0.750 1.000 9 1989 2018
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: 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: rs121913513
rs121913513
KIT
10 0.776 0.120 4 54727495 missense variant T/C snv 0.760 1.000 17 1995 2016
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: rs1057519710
rs1057519710
KIT
22 0.695 0.280 4 54733166 missense variant G/C;T snv 0.710 1.000 10 1995 2013
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: 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: 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: rs1805006
rs1805006
MC1R
8 0.790 0.080 16 89919510 missense variant C/A;G snv 5.2E-03; 4.0E-06 0.040 1.000 4 1996 2015
dbSNP: rs11547328
rs11547328
CDK4
27 0.701 0.360 12 57751648 missense variant G/A;T snv 4.0E-06 0.100 1.000 11 1997 2016
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: 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: rs771138120
rs771138120
CDKN2A
13 0.827 0.120 9 21971191 missense variant G/A;C;T snv 9.1E-06; 4.5E-06 0.070 1.000 7 1997 2015
dbSNP: rs104894095
rs104894095
CDKN2A
6 0.827 0.120 9 21971200 missense variant C/G;T snv 9.0E-06 0.060 1.000 6 1997 2007
dbSNP: rs1554653960
rs1554653960
CDKN2A
2 0.925 0.040 9 21971007 missense variant C/T snv 0.010 1.000 1 1997 1997
dbSNP: rs34886500
rs34886500
CDKN2A
2 0.925 0.080 9 21971064 missense variant G/A;C snv 0.010 1.000 1 1997 1997
dbSNP: rs138106763
rs138106763
SLC12A9
2 1.000 0.040 7 100857102 missense variant A/G snv 7.2E-05 1.2E-04 0.010 1.000 1 1998 1998
dbSNP: rs866551255
rs866551255
CDKN1A
2 1.000 0.040 6 36684145 missense variant G/A snv 0.010 1.000 1 1998 1998
dbSNP: rs104894094
rs104894094
CDKN2A
12 0.763 0.200 9 21971058 missense variant C/A;G;T snv 8.5E-06; 4.3E-06 0.800 1.000 10 1999 2016
dbSNP: rs104894098
rs104894098
CDKN2A
5 0.851 0.200 9 21970982 missense variant A/T snv 0.050 1.000 5 1999 2015
dbSNP: rs559848002
rs559848002
CDKN2A
3 0.925 0.120 9 21971147 missense variant T/C;G snv 4.7E-06 0.020 1.000 2 1999 2015
dbSNP: rs759763964
rs759763964
CDKN2A
2 0.925 0.120 9 21971142 missense variant C/G;T snv 1.4E-05 0.020 1.000 2 1999 2013