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: rs1382979668
rs1382979668
USP28
1.000 0.040 11 113809254 missense variant T/A snv 4.0E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.020 1.000 2 2016 2018
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: 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: 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: 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: rs121913248
rs121913248
NRAS
1.000 0.040 1 114716109 missense variant C/G;T snv 4.0E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.710 1.000 1 2001 2014
dbSNP: rs121913237
rs121913237
NRAS
0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.740 1.000 4 1989 2016
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: 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: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2007 2007
dbSNP: rs778384980
rs778384980
PXN ; PXN-AS1
1.000 0.040 12 120212445 missense variant C/T snv 8.0E-06 7.0E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2015 2015
dbSNP: rs761446954
rs761446954
FGFR2
1.000 0.040 10 121496722 missense variant C/T snv 4.0E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2014 2014
dbSNP: rs536181987
rs536181987
FGFR2
1.000 0.040 10 121503881 missense variant G/A snv 2.8E-05 2.8E-05
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2014 2014
dbSNP: rs762807774
rs762807774
SDF4
1.000 0.040 1 1228495 frameshift variant CGCGGCTCCGC/-;CGCGGCTCCGCCGCGGCTCCGC delins 7.0E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2018 2018
dbSNP: rs756198077
rs756198077
POT1
1.000 0.040 7 124842883 stop gained G/A snv 2.4E-05 3.5E-05
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2015 2015
dbSNP: rs947005337
rs947005337
POT1
0.925 0.120 7 124870933 missense variant A/G snv 1.6E-05 1.4E-05
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2019 2019
dbSNP: rs368807126
rs368807126
RAF1
1.000 0.040 3 12591730 missense variant T/A snv 4.0E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2016 2016
dbSNP: rs750697353
rs750697353
RAF1
0.882 0.080 3 12608919 missense variant C/T snv 1.2E-05 2.8E-05
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2005 2005
dbSNP: rs765857063
rs765857063
RAF1
1.000 0.040 3 12618634 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2014 2014
dbSNP: rs2733832
rs2733832
TYRP1 ; LURAP1L-AS1
1.000 0.040 9 12704725 intron variant C/A;G;T snv 8.0E-06; 0.45
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2015 2015
dbSNP: rs16901979
rs16901979
PCAT1 ; CASC19
0.724 0.480 8 127112671 intron variant C/A snv 0.16
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2011 2011
dbSNP: rs2242652
rs2242652
TERT
0.724 0.400 5 1279913 intron variant G/A snv 0.18
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2011 2011
dbSNP: rs2853676
rs2853676
TERT
0.667 0.560 5 1288432 intron variant T/A;C snv
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2011 2011
dbSNP: rs7944031
rs7944031
TEAD1
0.925 0.080 11 12907573 intron variant A/G snv 0.21
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2015 2015
dbSNP: rs2736098
rs2736098
TERT
0.600 0.600 5 1293971 synonymous variant C/T snv 0.29 0.22
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2011 2011