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: rs1057519704
rs1057519704
KIT
0.882 0.080 4 54727425 missense variant T/A snv
CUI: C0025202
Disease: melanoma
melanoma 		0.700 1.000 2 2011 2012
dbSNP: rs1057519705
rs1057519705
KIT
1.000 0.040 4 54727464 missense variant A/G snv
CUI: C0025202
Disease: melanoma
melanoma 		0.700 1.000 2 2014 2014
dbSNP: rs1057519706
rs1057519706
KIT
1.000 0.040 4 54727474 missense variant T/G snv
CUI: C0025202
Disease: melanoma
melanoma 		0.700 1.000 2 2014 2014
dbSNP: rs1057519720
rs1057519720
BRAF
0.851 0.080 7 140781602 missense variant CC/AA;GA mnv
CUI: C0025202
Disease: melanoma
melanoma 		0.700 1.000 2 2005 2014
dbSNP: rs1057519729
rs1057519729
MAP2K1
0.827 0.080 15 66435113 missense variant A/C snv
CUI: C0025202
Disease: melanoma
melanoma 		0.700 1.000 2 2009 2013
dbSNP: rs1057519730
rs1057519730
MAP2K1
1.000 0.040 15 66436786 missense variant T/A;G snv
CUI: C0025202
Disease: melanoma
melanoma 		0.700 1.000 2 2011 2012
dbSNP: rs1057519734
rs1057519734
MAP2K1
1.000 0.040 15 66485086 missense variant C/T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.700 1.000 2 2011 2012
dbSNP: rs1057519805
rs1057519805
MAP2K1
1.000 0.040 15 66436839 missense variant T/C snv
CUI: C0025202
Disease: melanoma
melanoma 		0.700 1.000 2 2009 2013
dbSNP: rs1057519807
rs1057519807
MAP2K2
1.000 0.040 19 4110586 missense variant A/T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.710 1.000 2 2014 2014
dbSNP: rs1057519808
rs1057519808
MAP2K2
1.000 0.040 19 4117543 missense variant T/G snv
CUI: C0025202
Disease: melanoma
melanoma 		0.710 1.000 2 2013 2014
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: 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: rs11551405
rs11551405
DCP1A ; LOC107986087
1.000 0.040 3 53284850 3 prime UTR variant C/A snv 0.16
CUI: C0025202
Disease: melanoma
melanoma 		0.020 1.000 2 2016 2018
dbSNP: rs121913233
rs121913233
HRAS ; LRRC56
0.627 0.520 11 533874 missense variant T/A;C;G snv
CUI: C0025202
Disease: melanoma
melanoma 		0.720 1.000 2 2016 2018
dbSNP: rs121913240
rs121913240
KRAS
0.672 0.440 12 25227342 missense variant T/A;C;G snv
CUI: C0025202
Disease: melanoma
melanoma 		0.020 1.000 2 2016 2018
dbSNP: rs121913274
rs121913274
PIK3CA
0.645 0.320 3 179218304 missense variant A/C;G;T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.700 1.000 2 2014 2014
dbSNP: rs121913349
rs121913349
BRAF
0.925 0.200 7 140781618 missense variant C/G;T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.700 1.000 2 2014 2014
dbSNP: rs121913363
rs121913363
BRAF
1.000 0.040 7 140753361 missense variant T/C snv
CUI: C0025202
Disease: melanoma
melanoma 		0.700 1.000 2 2014 2015
dbSNP: rs121913375
rs121913375
BRAF
0.851 0.240 7 140753339 missense variant G/A;C snv
CUI: C0025202
Disease: melanoma
melanoma 		0.710 1.000 2 2014 2018
dbSNP: rs121913499
rs121913499
IDH1
0.605 0.520 2 208248389 missense variant G/A;C;T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.020 1.000 2 2010 2018
dbSNP: rs121913514
rs121913514
KIT
0.763 0.240 4 54733174 missense variant T/A;G snv
CUI: C0025202
Disease: melanoma
melanoma 		0.700 1.000 2 2011 2012
dbSNP: rs121913521
rs121913521
KIT
0.790 0.120 4 54727447 missense variant T/A;C;G snv
CUI: C0025202
Disease: melanoma
melanoma 		0.700 1.000 2 2008 2014
dbSNP: rs121913523
rs121913523
KIT
1.000 0.040 4 54728092 missense variant T/A;C snv
CUI: C0025202
Disease: melanoma
melanoma 		0.700 1.000 2 2011 2012
dbSNP: rs13016963
rs13016963
FLACC1
0.851 0.080 2 201298088 intron variant A/G snv 0.59
CUI: C0025202
Disease: melanoma
melanoma 		0.800 1.000 2 2011 2017
dbSNP: rs132985
rs132985
PLA2G6
0.827 0.120 22 38167464 intron variant C/T snv 0.51
CUI: C0025202
Disease: melanoma
melanoma 		0.710 1.000 2 2009 2012