Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.800 0.979 454 2002 2020
dbSNP: rs397517132
rs397517132
EGFR
0.623 0.280 7 55191846 missense variant A/T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.100 0.941 17 2011 2019
dbSNP: rs11554290
rs11554290
NRAS
0.583 0.600 1 114713908 missense variant T/A;C;G snv
CUI: C0025202
Disease: melanoma
melanoma 		0.800 1.000 16 1989 2019
dbSNP: rs1805007
rs1805007
MC1R
0.695 0.280 16 89919709 missense variant C/A;G;T snv 4.4E-02
CUI: C0025202
Disease: melanoma
melanoma 		0.800 0.938 15 2001 2019
dbSNP: rs149617956
rs149617956
MITF
0.672 0.560 3 69964940 missense variant G/A snv 1.4E-03 1.6E-03
CUI: C0025202
Disease: melanoma
melanoma 		0.100 1.000 13 2011 2019
dbSNP: rs1042522
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67
CUI: C0025202
Disease: melanoma
melanoma 		0.100 0.833 12 2006 2019
dbSNP: rs11547328
rs11547328
CDK4
0.701 0.360 12 57751648 missense variant G/A;T snv 4.0E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.100 1.000 11 1997 2016
dbSNP: rs104894094
rs104894094
CDKN2A
0.763 0.200 9 21971058 missense variant C/A;G;T snv 8.5E-06; 4.3E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.800 1.000 10 1999 2016
dbSNP: rs1805008
rs1805008
MC1R
0.732 0.240 16 89919736 missense variant C/T snv 4.7E-02 4.8E-02
CUI: C0025202
Disease: melanoma
melanoma 		0.090 0.889 9 2001 2019
dbSNP: rs121913254
rs121913254
NRAS
0.658 0.440 1 114713909 stop gained G/A;C;T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.780 1.000 8 1989 2016
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32
CUI: C0025202
Disease: melanoma
melanoma 		0.080 0.875 8 2005 2018
dbSNP: rs1057519874
rs1057519874
RAC1
0.807 0.120 7 6387261 missense variant C/A;T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.070 1.000 7 2013 2019
dbSNP: rs1805009
rs1805009
MC1R ; TUBB3
0.790 0.280 16 89920138 missense variant G/A;C snv 4.0E-06; 9.1E-03
CUI: C0025202
Disease: melanoma
melanoma 		0.070 0.857 7 2001 2018
dbSNP: rs771138120
rs771138120
CDKN2A
0.827 0.120 9 21971191 missense variant G/A;C;T snv 9.1E-06; 4.5E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.070 1.000 7 1997 2015
dbSNP: rs885479
rs885479
MC1R
0.732 0.280 16 89919746 missense variant G/A snv 0.15 8.3E-02
CUI: C0025202
Disease: melanoma
melanoma 		0.070 0.714 7 2001 2019
dbSNP: rs104894095
rs104894095
CDKN2A
0.827 0.120 9 21971200 missense variant C/G;T snv 9.0E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.060 1.000 6 1997 2007
dbSNP: rs121913513
rs121913513
KIT
0.776 0.120 4 54727495 missense variant T/C snv
CUI: C0025202
Disease: melanoma
melanoma 		0.760 1.000 6 1995 2016
dbSNP: rs12203592
rs12203592
IRF4
0.649 0.320 6 396321 intron variant C/T snv 0.10
CUI: C0025202
Disease: melanoma
melanoma 		0.060 1.000 6 2010 2017
dbSNP: rs1805005
rs1805005
MC1R
0.827 0.080 16 89919436 missense variant G/T snv 8.6E-02 8.0E-02
CUI: C0025202
Disease: melanoma
melanoma 		0.060 1.000 6 2006 2015
dbSNP: rs3731249
rs3731249
CDKN2A
0.683 0.320 9 21970917 missense variant C/A;G;T snv 2.1E-02
CUI: C0025202
Disease: melanoma
melanoma 		0.060 0.667 6 2002 2011
dbSNP: rs401681
rs401681
CLPTM1L
0.620 0.640 5 1321972 intron variant C/T snv 0.48
CUI: C0025202
Disease: melanoma
melanoma 		0.860 1.000 6 2010 2015
dbSNP: rs104894097
rs104894097
CDKN2A
0.807 0.240 9 21974757 missense variant C/A;G;T snv 1.7E-05; 1.3E-05
CUI: C0025202
Disease: melanoma
melanoma 		0.750 1.000 5 1995 2015
dbSNP: rs104894098
rs104894098
CDKN2A
0.851 0.200 9 21970982 missense variant A/T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.050 1.000 5 1999 2015
dbSNP: rs1057519742
rs1057519742
GNA11
0.827 0.160 19 3118944 missense variant A/C;T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.750 1.000 5 1989 2018
dbSNP: rs1353702185
rs1353702185
MDM2
0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.050 1.000 5 2009 2014