Source: CURATED

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: 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: rs1057519804
rs1057519804
AKT1
1.000 0.040 14 104776711 missense variant G/T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.700 1.000 1 2014 2014
dbSNP: rs4698934
rs4698934
TET2 ; TET2-AS1
1.000 0.040 4 105218230 intron variant T/C snv 0.12
CUI: C0025202
Disease: melanoma
melanoma 		0.810 1.000 1 2014 2014
dbSNP: rs17119461
rs17119461
LINC02627
1.000 0.040 10 105756594 intergenic variant T/C snv 7.7E-02
CUI: C0025202
Disease: melanoma
melanoma 		0.810 1.000 1 2012 2014
dbSNP: rs10739221
rs10739221
LINC01505
0.851 0.080 9 106298549 intron variant T/C;G snv
CUI: C0025202
Disease: melanoma
melanoma 		0.700 1.000 1 2017 2017
dbSNP: rs587779826
rs587779826
ATM
0.851 0.360 11 108267344 splice donor variant T/C snv 4.0E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.700 0
dbSNP: rs1801516
rs1801516
ATM
0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11
CUI: C0025202
Disease: melanoma
melanoma 		0.810 1.000 2 2011 2017
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 14 1989 2019
dbSNP: rs121913255
rs121913255
NRAS
0.667 0.400 1 114713907 missense variant T/A;G snv
CUI: C0025202
Disease: melanoma
melanoma 		0.700 1.000 13 1989 2014
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 1 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 13 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 2 2001 2014
dbSNP: rs121434596
rs121434596
NRAS
0.677 0.440 1 114716123 missense variant C/A;G;T snv 4.0E-06; 4.0E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.700 1.000 10 1989 2014
dbSNP: rs121434595
rs121434595
NRAS
0.708 0.320 1 114716124 missense variant C/A;G;T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.700 1.000 9 1989 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 7 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 8 1989 2016
dbSNP: rs137853080
rs137853080
STK11
1.000 0.040 19 1207058 missense variant T/G snv
CUI: C0025202
Disease: melanoma
melanoma 		0.800 0
dbSNP: rs137853081
rs137853081
STK11
1.000 0.040 19 1219352 missense variant G/C;T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.800 0
dbSNP: rs121913323
rs121913323
STK11
1.000 0.040 19 1220416 stop gained C/T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.700 0
dbSNP: rs121913315
rs121913315
STK11
0.882 0.160 19 1220488 missense variant G/A;T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.800 1.000 1 1999 1999
dbSNP: rs1057519815
rs1057519815
RAF1
1.000 0.040 3 12599696 missense variant C/G snv
CUI: C0025202
Disease: melanoma
melanoma 		0.700 1.000 1 2013 2013
dbSNP: rs727505017
rs727505017
RAF1
0.882 0.200 3 12604201 missense variant A/G;T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.700 1.000 1 2013 2013
dbSNP: rs139996880
rs139996880
TERT
0.882 0.120 5 1284538 intron variant G/A snv 0.12
CUI: C0025202
Disease: melanoma
melanoma 		0.700 1.000 1 2017 2017
dbSNP: rs401681
rs401681
CLPTM1L
0.620 0.640 5 1321972 intron variant C/T snv 0.48
CUI: C0025202
Disease: melanoma
melanoma 		0.860 1.000 1 2010 2015