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: rs121913250
rs121913250
NRAS
0.683 0.440 1 114716127 missense variant C/A;G;T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.720 1.000 2 1989 2016
dbSNP: rs121913338
rs121913338
BRAF
0.677 0.400 7 140753354 missense variant T/A;C;G snv
CUI: C0025202
Disease: melanoma
melanoma 		0.720 1.000 2 1986 2019
dbSNP: rs121913366
rs121913366
BRAF
0.763 0.400 7 140753345 missense variant A/C;T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.720 1.000 2 1989 2017
dbSNP: rs121913499
rs121913499
IDH1
0.605 0.520 2 208248389 missense variant G/A;C;T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.020 1.000 2 2010 2018
dbSNP: rs1444669684
rs1444669684
CDKN2A ; CDKN2B-AS1
0.658 0.480 9 21994285 missense variant C/A;T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.020 1.000 2 2002 2006
dbSNP: rs3219090
rs3219090
PARP1
1.000 0.040 1 226376990 intron variant T/C snv 0.58
CUI: C0025202
Disease: melanoma
melanoma 		0.820 1.000 2 2011 2013
dbSNP: rs36115365
rs36115365 		0.807 0.160 5 1313127 upstream gene variant G/A;C;T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.020 1.000 2 2017 2019
dbSNP: rs397516792
rs397516792
MAP2K1
0.827 0.280 15 66436825 missense variant C/A;G;T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.720 1.000 2 2009 2015
dbSNP: rs4444903
rs4444903
EGF
0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51
CUI: C0025202
Disease: melanoma
melanoma 		0.020 0.500 2 2013 2015
dbSNP: rs45430
rs45430
MX2
1.000 0.040 21 41374154 intron variant C/T snv 0.48
CUI: C0025202
Disease: melanoma
melanoma 		0.820 1.000 2 2011 2019
dbSNP: rs4911442
rs4911442
NCOA6
1.000 0.040 20 34767243 intron variant G/A snv 0.93
CUI: C0025202
Disease: melanoma
melanoma 		0.720 1.000 2 2008 2014
dbSNP: rs764323487
rs764323487
OCA2
1.000 0.040 15 27986635 missense variant T/A snv
CUI: C0025202
Disease: melanoma
melanoma 		0.020 1.000 2 2008 2008
dbSNP: rs878853647
rs878853647
CDKN2A
0.882 0.120 9 21971099 missense variant C/G;T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.020 1.000 2 1999 2013
dbSNP: rs1015362
rs1015362 		0.925 0.080 20 34150806 regulatory region variant C/T snv 0.42
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2013 2013
dbSNP: rs1015363
rs1015363 		1.000 0.040 20 34150529 intergenic variant G/A snv 0.69
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2013 2013
dbSNP: rs10231520
rs10231520
ABCB5
1.000 0.040 7 20742471 intron variant C/T snv 0.29
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2013 2013
dbSNP: rs104894104
rs104894104
CDKN2A
0.790 0.160 9 21971019 missense variant G/A;T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2007 2007
dbSNP: rs104894229
rs104894229
HRAS ; LRRC56
0.564 0.600 11 534289 missense variant C/A;G;T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2016 2016
dbSNP: rs104894230
rs104894230
HRAS ; LRRC56
0.564 0.600 11 534288 missense variant C/A;G;T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.710 1.000 1 2014 2016
dbSNP: rs10492396
rs10492396
BRCA2
0.925 0.080 13 32384750 non coding transcript exon variant G/A snv 4.8E-02
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2015 2015
dbSNP: rs10515789
rs10515789
EBF1
1.000 0.040 5 159079407 intron variant T/G snv 0.11
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2015 2015
dbSNP: rs1051849
rs1051849
DUSP14
1.000 0.040 17 37513222 3 prime UTR variant T/C snv 9.9E-02
CUI: C0025202
Disease: melanoma
melanoma 		0.010 < 0.001 1 2013 2013
dbSNP: rs1057519710
rs1057519710
KIT
0.695 0.280 4 54733166 missense variant G/C;T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.710 1.000 1 1995 2013
dbSNP: rs1057519807
rs1057519807
MAP2K2
1.000 0.040 19 4110586 missense variant A/T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.710 1.000 1 2014 2014
dbSNP: rs1057519808
rs1057519808
MAP2K2
1.000 0.040 19 4117543 missense variant T/G snv
CUI: C0025202
Disease: melanoma
melanoma 		0.710 1.000 1 2013 2014