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: rs1405419494
rs1405419494
RUNX2
1.000 0.040 6 45422762 synonymous variant G/A;T snv 2.4E-05; 8.0E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2002 2002
dbSNP: rs755878795
rs755878795
RBP1 ; LOC100507291
1.000 0.040 3 139517664 missense variant C/G snv 4.4E-05 1.4E-05
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2002 2002
dbSNP: rs768569177
rs768569177
RUNX2
1.000 0.040 6 45422720 synonymous variant G/A snv 3.2E-05; 1.4E-05 7.0E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2002 2002
dbSNP: rs397516896
rs397516896
BRAF
0.763 0.360 7 140753355 missense variant C/G;T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.700 1.000 2 2002 2003
dbSNP: rs758389471
rs758389471
CDKN2A
0.882 0.080 9 21971160 missense variant C/G;T snv 4.7E-06; 4.7E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2003 2003
dbSNP: rs121913403
rs121913403
CTNNB1
0.683 0.240 3 41224622 missense variant C/A;G;T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.700 1.000 7 1997 2004
dbSNP: rs121913407
rs121913407
CTNNB1
0.763 0.240 3 41224645 missense variant T/C;G snv
CUI: C0025202
Disease: melanoma
melanoma 		0.700 1.000 7 1997 2004
dbSNP: rs34767364
rs34767364
NBN
0.701 0.280 8 89971232 missense variant G/A;C snv 2.5E-03
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2004 2004
dbSNP: rs868443937
rs868443937
ING1
1.000 0.040 13 110715751 missense variant G/C;T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2004 2004
dbSNP: rs1639679
rs1639679
BRAF
1.000 0.040 7 140778454 intron variant G/T snv 9.8E-02
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2005 2005
dbSNP: rs2066844
rs2066844
NOD2
0.587 0.520 16 50712015 missense variant C/T snv 2.6E-02 2.9E-02
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2005 2005
dbSNP: rs746830376
rs746830376
EPHB2
0.925 0.200 1 22784501 missense variant G/A snv 2.4E-05 3.5E-05
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2005 2005
dbSNP: rs748523570
rs748523570
IL18
1.000 0.040 11 112150119 missense variant T/C snv 4.0E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2005 2005
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: rs776935407
rs776935407
SGSM3
0.851 0.080 22 40409261 missense variant T/A snv 4.1E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.010 < 0.001 1 2005 2005
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: rs34301344
rs34301344
ARL11
0.689 0.400 13 49630893 stop gained G/A snv 9.7E-03 7.9E-03
CUI: C0025202
Disease: melanoma
melanoma 		0.020 1.000 2 2006 2006
dbSNP: rs1136410
rs1136410
PARP1
0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2006 2006
dbSNP: rs1487774219
rs1487774219
CDKN2B ; CDKN2B-AS1
1.000 0.040 9 22008910 missense variant T/C snv 8.1E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2006 2006
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: rs755100942
rs755100942
ARL11
0.724 0.320 13 49630894 stop gained G/A snv 4.2E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2006 2006
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: 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: rs1063045
rs1063045
NBN
1.000 0.040 8 89982791 synonymous variant C/T snv 0.35 0.33
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2007 2007
dbSNP: rs1131691186
rs1131691186
CDKN2A
0.925 0.120 9 21974761 missense variant C/A;T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2007 2007