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: rs781734330
rs781734330
ATP13A2
0.851 0.080 1 16995981 missense variant C/T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2017 2017
dbSNP: rs1281363680
rs1281363680
ATR
1.000 0.040 3 142566228 missense variant T/C snv 7.0E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2017 2017
dbSNP: rs749496294
rs749496294
ATRN
0.925 0.040 20 3562435 missense variant G/A snv 1.2E-05 1.4E-05
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2009 2009
dbSNP: rs869312757
rs869312757
BAP1
0.925 0.120 3 52405163 stop gained G/A;C snv
CUI: C0025202
Disease: melanoma
melanoma 		0.700 0
dbSNP: rs374980122
rs374980122
BCL2L11 ; MIR4435-2HG
1.000 0.040 2 111142384 missense variant A/C snv 1.3E-05 3.5E-05
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2009 2009
dbSNP: rs6265
rs6265
BDNF ; BDNF-AS
0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2016 2016
dbSNP: rs1264171723
rs1264171723
BMP7 ; LOC112268270
1.000 0.040 20 57266050 missense variant G/A snv 7.0E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2008 2008
dbSNP: rs17305657
rs17305657
BPIFA3
1.000 0.040 20 33218782 intron variant T/C snv 5.2E-02
CUI: C0025202
Disease: melanoma
melanoma 		0.700 1.000 2 2008 2011
dbSNP: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.800 0.979 477 2002 2020
dbSNP: rs121913377
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv
CUI: C0025202
Disease: melanoma
melanoma 		0.800 0.981 464 2002 2020
dbSNP: rs121913227
rs121913227
BRAF
0.653 0.320 7 140753336 missense variant AC/CT;TT mnv
CUI: C0025202
Disease: melanoma
melanoma 		0.800 1.000 54 2002 2020
dbSNP: rs121913378
rs121913378
BRAF
0.776 0.280 7 140753337 missense variant C/A;G;T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.710 1.000 15 2002 2014
dbSNP: rs121913366
rs121913366
BRAF
0.763 0.400 7 140753345 missense variant A/C;T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.720 1.000 14 1989 2017
dbSNP: rs121913368
rs121913368
BRAF
0.925 0.040 7 140753345 missense variant AG/GA mnv
CUI: C0025202
Disease: melanoma
melanoma 		0.710 1.000 13 2002 2018
dbSNP: rs121913369
rs121913369
BRAF
0.790 0.280 7 140753346 missense variant G/A;C snv 4.0E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.700 1.000 12 2002 2014
dbSNP: rs121913364
rs121913364
BRAF
0.641 0.520 7 140753334 missense variant T/C;G snv 4.0E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.720 1.000 9 2002 2016
dbSNP: rs121913338
rs121913338
BRAF
0.677 0.400 7 140753354 missense variant T/A;C;G snv
CUI: C0025202
Disease: melanoma
melanoma 		0.720 1.000 6 1986 2019
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: 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: 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: 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: rs121913351
rs121913351
BRAF
0.776 0.240 7 140781611 missense variant C/A;G;T snv 4.0E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.800 1.000 2 2013 2014
dbSNP: rs121913355
rs121913355
BRAF
0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.710 1.000 2 2009 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: rs121913371
rs121913371
BRAF
1.000 0.040 7 140781678 missense variant G/A;T snv 4.0E-06; 8.0E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.700 1.000 2 2007 2014