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: rs1393350
rs1393350
TYR ; LOC107984363
0.851 0.160 11 89277878 intron variant G/A snv 0.17
CUI: C0025202
Disease: melanoma
melanoma 		0.800 1.000 4 2009 2017
dbSNP: rs397516792
rs397516792
MAP2K1
0.827 0.280 15 66436825 missense variant C/A;G;T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.720 1.000 4 2009 2015
dbSNP: rs7023329
rs7023329
MTAP
0.790 0.160 9 21816529 intron variant A/G snv 0.50
CUI: C0025202
Disease: melanoma
melanoma 		0.810 1.000 4 2009 2017
dbSNP: rs1057519708
rs1057519708
KIT
1.000 0.040 4 54728096 missense variant T/A;G snv
CUI: C0025202
Disease: melanoma
melanoma 		0.700 1.000 3 2011 2014
dbSNP: rs1057519718
rs1057519718
BRAF
0.925 0.160 7 140753355 missense variant CA/TC mnv
CUI: C0025202
Disease: melanoma
melanoma 		0.700 1.000 3 2002 2010
dbSNP: rs1057519732
rs1057519732
MAP2K1
0.827 0.160 15 66436824 missense variant C/A;T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.700 1.000 3 2009 2012
dbSNP: rs1057519733
rs1057519733
MAP2K1
1.000 0.040 15 66481793 missense variant G/A snv
CUI: C0025202
Disease: melanoma
melanoma 		0.700 1.000 3 2009 2013
dbSNP: rs121913337
rs121913337
BRAF
0.925 0.200 7 140753353 missense variant A/C;T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.700 1.000 3 2002 2014
dbSNP: rs1057519703
rs1057519703
KIT
1.000 0.040 4 54727418 missense variant A/C;T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.700 1.000 2 2014 2014
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: 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: 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: rs16953002
rs16953002
FTO
0.882 0.080 16 54080912 intron variant G/A snv 0.19
CUI: C0025202
Disease: melanoma
melanoma 		0.800 1.000 2 2013 2017