Source: ALL

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: rs721970
rs721970 		1.000 0.040 20 33315727 upstream gene variant A/G snv 0.96
CUI: C0025202
Disease: melanoma
melanoma 		0.700 1.000 1 2008 2008
dbSNP: rs1885120
rs1885120
MYH7B ; MIR499A ; LOC107985393
1.000 0.040 20 34989186 intron variant C/G snv 0.96
CUI: C0025202
Disease: melanoma
melanoma 		0.800 1.000 2 2008 2017
dbSNP: rs6059655
rs6059655
RALY
0.790 0.080 20 34077942 intron variant A/G snv 0.95
CUI: C0025202
Disease: melanoma
melanoma 		0.700 1.000 1 2017 2017
dbSNP: rs6058339
rs6058339
PHF20
1.000 0.040 20 35872557 intron variant C/T snv 0.94
CUI: C0025202
Disease: melanoma
melanoma 		0.700 1.000 1 2008 2008
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 3 2008 2014
dbSNP: rs291671
rs291671
CDK5RAP1
1.000 0.040 20 33363039 intron variant G/A snv 0.92
CUI: C0025202
Disease: melanoma
melanoma 		0.700 1.000 1 2008 2008
dbSNP: rs2995264
rs2995264
STN1
0.851 0.080 10 103909085 intron variant G/A snv 0.88
CUI: C0025202
Disease: melanoma
melanoma 		0.700 1.000 1 2017 2017
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: rs910871
rs910871
NCOA6
1.000 0.040 20 34745404 intron variant C/A snv 0.85
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2013 2013
dbSNP: rs35390
rs35390
SLC45A2
1.000 0.040 5 33955221 intron variant C/A snv 0.81
CUI: C0025202
Disease: melanoma
melanoma 		0.800 1.000 1 2011 2011
dbSNP: rs7335046
rs7335046 		0.807 0.040 13 99389484 downstream gene variant G/C snv 0.80
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2011 2011
dbSNP: rs8059973
rs8059973
DBNDD1
1.000 0.040 16 90013126 intron variant A/G snv 0.78
CUI: C0025202
Disease: melanoma
melanoma 		0.700 1.000 1 2012 2012
dbSNP: rs2306574
rs2306574
PRKCD
1.000 0.040 3 53188745 synonymous variant C/T snv 0.75 0.75
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2017 2017
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 2 2011 2013
dbSNP: rs222016
rs222016
GC
0.882 0.120 4 71769258 intron variant G/A snv 0.72
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2013 2013
dbSNP: rs700635
rs700635
FLACC1
0.925 0.040 2 201288502 3 prime UTR variant C/A snv 0.72
CUI: C0025202
Disease: melanoma
melanoma 		0.700 1.000 1 2011 2011
dbSNP: rs10931936
rs10931936
CASP8
0.827 0.120 2 201279205 intron variant T/C snv 0.72
CUI: C0025202
Disease: melanoma
melanoma 		0.700 1.000 1 2011 2011
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: rs2910164
rs2910164
MIR146A ; MIR3142HG
0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70
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: 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: rs498136
rs498136 		0.851 0.080 11 69552350 intergenic variant A/C snv 0.68
CUI: C0025202
Disease: melanoma
melanoma 		0.700 1.000 1 2017 2017
dbSNP: rs2228001
rs2228001
XPC
0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2014 2014
dbSNP: rs869330
rs869330
MTAP
0.925 0.080 9 21804618 intron variant A/G snv 0.62
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2019 2019
dbSNP: rs12380505
rs12380505
KHSRPP1
1.000 0.040 9 21695894 non coding transcript exon variant A/G snv 0.62
CUI: C0025202
Disease: melanoma
melanoma 		0.700 1.000 1 2011 2011