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: 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: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.100 0.900 10 2006 2017
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.100 0.900 10 2006 2017
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: 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: 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: rs1805008
rs1805008
MC1R
16 0.732 0.240 16 89919736 missense variant C/T snv 4.7E-02 4.8E-02 0.090 0.889 9 2001 2019
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: rs13181
rs13181
ERCC2 ; KLC3
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.080 0.875 8 2005 2018
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: 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: rs1057519874
rs1057519874
RAC1
9 0.807 0.120 7 6387261 missense variant C/A;T snv 0.070 1.000 7 2013 2019
dbSNP: rs1805009
rs1805009
MC1R ; TUBB3
9 0.790 0.280 16 89920138 missense variant G/A;C snv 4.0E-06; 9.1E-03 0.070 0.857 7 2001 2018
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: rs885479
rs885479
MC1R
16 0.732 0.280 16 89919746 missense variant G/A snv 0.15 8.3E-02 0.070 0.714 7 2001 2019
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: 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: 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: 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: 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: rs1805005
rs1805005
MC1R
8 0.827 0.080 16 89919436 missense variant G/T snv 8.6E-02 8.0E-02 0.060 1.000 6 2006 2015
dbSNP: rs3731249
rs3731249
CDKN2A
23 0.683 0.320 9 21970917 missense variant C/A;G;T snv 2.1E-02 0.060 0.667 6 2002 2011