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: rs1057519813
rs1057519813
PDGFRA
1.000 0.040 4 54285923 missense variant G/A snv
CUI: C0025202
Disease: melanoma
melanoma 		0.700 1.000 1 2013 2013
dbSNP: rs1057519814
rs1057519814
PDGFRA
1.000 0.040 4 54285934 missense variant C/T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.700 1.000 1 2013 2013
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: rs1057519834
rs1057519834
NRAS
0.658 0.480 1 114713908 missense variant TG/CT mnv
CUI: C0025202
Disease: melanoma
melanoma 		0.800 1.000 16 2005 2019
dbSNP: rs1057519837
rs1057519837
CTNNB1
1.000 0.040 3 41224631 missense variant C/G;T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.700 1.000 1 2014 2014
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: rs1057519855
rs1057519855
HRAS ; LRRC56
0.776 0.120 11 533873 missense variant CT/AC;TC mnv
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2018 2018
dbSNP: rs1057519856
rs1057519856
MAP2K1
0.925 0.040 15 66436815 missense variant T/A snv
CUI: C0025202
Disease: melanoma
melanoma 		0.020 1.000 2 2014 2014
dbSNP: rs1057519860
rs1057519860
EGFR
0.851 0.080 7 55160316 missense variant C/A snv
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2019 2019
dbSNP: rs1057519874
rs1057519874
RAC1
0.807 0.120 7 6387261 missense variant C/A;T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.070 1.000 7 2013 2019
dbSNP: rs1057520031
rs1057520031
KIT
1.000 0.040 4 54727440 missense variant A/C;G snv
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2009 2009
dbSNP: rs1060502550
rs1060502550
KIT
1.000 0.040 4 54727488 missense variant A/G snv
CUI: C0025202
Disease: melanoma
melanoma 		0.010 < 0.001 1 2011 2011
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: rs1064794292
rs1064794292
CDKN2A
0.882 0.200 9 21974760 missense variant C/T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.710 1.000 1 2009 2009
dbSNP: rs10735810
rs10735810
VDR
0.662 0.640 12 47879112 start lost A/C;G;T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2009 2009
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: rs10754833
rs10754833
NID1
0.851 0.040 1 236021631 intron variant T/A;C snv
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2011 2011
dbSNP: rs10757257
rs10757257
MTAP
0.882 0.080 9 21806565 intron variant G/A snv 0.34
CUI: C0025202
Disease: melanoma
melanoma 		0.710 1.000 2 2009 2012
dbSNP: rs10816595
rs10816595 		0.851 0.080 9 107947454 regulatory region variant A/G snv 0.33
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2019 2019
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: rs10852628
rs10852628
DBNDD1
1.000 0.040 16 90013519 intron variant C/A;T snv
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: rs10951982
rs10951982
RAC1
0.851 0.160 7 6382925 intron variant G/A;T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2018 2018
dbSNP: rs11076650
rs11076650
AFG3L1P
1.000 0.040 16 90001533 non coding transcript exon variant G/A snv 0.49
CUI: C0025202
Disease: melanoma
melanoma 		0.700 1.000 1 2011 2011
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