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: rs1057519695
rs1057519695
NRAS
0.641 0.520 1 114713907 missense variant TT/CA;CC mnv
CUI: C0025202
Disease: melanoma
melanoma 		0.800 1.000 16 1989 2019
dbSNP: rs876658511
rs876658511
CDKN2A
1.000 0.040 9 21971147 frameshift variant TGGGCTCCGCGCCGTGGAGCAGCAGCAGCTCCGCCACT/- delins
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2010 2010
dbSNP: rs1057519834
rs1057519834
NRAS
0.658 0.480 1 114713908 missense variant TG/CT mnv
CUI: C0025202
Disease: melanoma
melanoma 		0.800 1.000 15 2005 2019
dbSNP: rs1057519853
rs1057519853
GNAQ
0.851 0.080 9 77794572 missense variant TG/AA mnv
CUI: C0025202
Disease: melanoma
melanoma 		0.030 1.000 3 2012 2018
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: 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
dbSNP: rs10830253
rs10830253
TYR
0.851 0.080 11 89294875 intron variant T/G snv 0.29
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2015 2015
dbSNP: rs1335510
rs1335510
LOC107987026
1.000 0.040 9 21757804 intergenic variant T/G snv 0.32
CUI: C0025202
Disease: melanoma
melanoma 		0.710 1.000 1 2012 2015
dbSNP: rs1800872
rs1800872
IL10 ; IL19
0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2009 2009
dbSNP: rs2237028
rs2237028
KIT
1.000 0.040 4 54670209 intron variant T/G snv 0.44
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2013 2013
dbSNP: rs2282679
rs2282679
GC
0.645 0.480 4 71742666 intron variant T/G snv 0.21
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2014 2014
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2007 2007
dbSNP: rs4911414
rs4911414 		0.882 0.120 20 34141638 regulatory region variant T/G snv 0.73
CUI: C0025202
Disease: melanoma
melanoma 		0.710 1.000 1 2011 2013
dbSNP: rs78378222
rs78378222
TP53
0.662 0.360 17 7668434 3 prime UTR variant T/G snv 8.3E-03
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2013 2013
dbSNP: rs121913364
rs121913364
BRAF
0.641 0.520 7 140753334 missense variant T/C;G snv 4.0E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.720 1.000 2 2002 2016
dbSNP: rs559848002
rs559848002
CDKN2A
0.925 0.120 9 21971147 missense variant T/C;G snv 4.7E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.020 1.000 2 1999 2015
dbSNP: rs3803185
rs3803185
ARL11
0.708 0.320 13 49630889 missense variant T/C;G snv 0.39
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2006 2006
dbSNP: rs62068372
rs62068372
VPS9D1 ; ZNF276
0.925 0.080 16 89718699 intron variant T/C;G snv
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2015 2015
dbSNP: rs6431588
rs6431588
ILKAP
0.925 0.040 2 238185147 intron variant T/C;G snv 0.86 0.85
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2014 2014
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: rs25487
rs25487
XRCC1
0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71
CUI: C0025202
Disease: melanoma
melanoma 		0.030 0.667 3 2006 2016
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: 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: rs1110400
rs1110400
MC1R
1.000 0.040 16 89919722 missense variant T/C snv 5.6E-03 6.6E-03
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2008 2008
dbSNP: rs1156242341
rs1156242341
PAX3
1.000 0.040 2 222202072 missense variant T/C snv 7.0E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2009 2009