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: rs121909232
rs121909232
PTEN
0.776 0.160 10 87952258 stop gained C/A;G snv 4.0E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.700 0
dbSNP: rs121909233
rs121909233
PTEN ; KLLN
1.000 0.040 10 87864524 missense variant G/A snv
CUI: C0025202
Disease: melanoma
melanoma 		0.800 0
dbSNP: rs121909234
rs121909234
PTEN
1.000 0.040 10 87957867 missense variant G/A 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: 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: rs180177132
rs180177132
PALB2
0.790 0.280 16 23621362 stop gained C/T snv 6.0E-05 2.1E-05
CUI: C0025202
Disease: melanoma
melanoma 		0.700 0
dbSNP: rs193922219
rs193922219
FBN1
0.763 0.280 15 48446701 splice region variant C/A;T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.700 0
dbSNP: rs200476704
rs200476704
KCNAB3 ; TRAPPC1 ; CNTROB
1.000 0.040 17 7930659 stop gained G/A;C snv 2.4E-05
CUI: C0025202
Disease: melanoma
melanoma 		0.700 0
dbSNP: rs36204594
rs36204594
CDKN2A
1.000 0.040 9 21971180 missense variant G/A;T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.700 0
dbSNP: rs45580035
rs45580035
BRCA2
0.790 0.240 13 32380043 missense variant C/T snv 1.2E-05
CUI: C0025202
Disease: melanoma
melanoma 		0.700 0
dbSNP: rs555607708
rs555607708
CHEK2
0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03
CUI: C0025202
Disease: melanoma
melanoma 		0.700 0
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: rs80358683
rs80358683
BRCA2
0.851 0.120 13 32338880 stop gained C/T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.700 0
dbSNP: rs80359204
rs80359204
BRCA2
1.000 0.040 13 32394741 missense variant A/G snv
CUI: C0025202
Disease: melanoma
melanoma 		0.700 0
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: rs1051849
rs1051849
DUSP14
1.000 0.040 17 37513222 3 prime UTR variant T/C snv 9.9E-02
CUI: C0025202
Disease: melanoma
melanoma 		0.010 < 0.001 1 2013 2013
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: rs1351383
rs1351383
PSMB9 ; TAP1
1.000 0.040 6 32854492 intron variant A/C snv 0.43
CUI: C0025202
Disease: melanoma
melanoma 		0.010 < 0.001 1 2013 2013
dbSNP: rs1799944
rs1799944
BRCA2
0.882 0.080 13 32337326 missense variant A/G snv 5.4E-02 4.5E-02
CUI: C0025202
Disease: melanoma
melanoma 		0.010 < 0.001 1 2008 2008
dbSNP: rs2107301
rs2107301
VDR
0.807 0.120 12 47861787 intron variant G/A snv 0.26
CUI: C0025202
Disease: melanoma
melanoma 		0.010 < 0.001 1 2012 2012
dbSNP: rs2127675
rs2127675 		1.000 0.040 6 32883073 upstream gene variant A/G snv 0.36
CUI: C0025202
Disease: melanoma
melanoma 		0.010 < 0.001 1 2013 2013
dbSNP: rs25489
rs25489
XRCC1
0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02
CUI: C0025202
Disease: melanoma
melanoma 		0.010 < 0.001 1 2012 2012
dbSNP: rs4608623
rs4608623
PLA2G6 ; MAFF
0.925 0.040 22 38201371 non coding transcript exon variant G/T snv 0.52
CUI: C0025202
Disease: melanoma
melanoma 		0.010 < 0.001 1 2013 2013
dbSNP: rs5352
rs5352
EDNRB ; EDNRB-AS1
0.827 0.200 13 77901095 missense variant C/T snv 1.0E-02 1.1E-02
CUI: C0025202
Disease: melanoma
melanoma 		0.010 < 0.001 1 2011 2011