Disease: melanoma
Source: BEFREE ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs112445441
KRAS
0.658 0.400 12 25245347 missense variant C/A;G;T snv 24
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins 213
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 484
rs121434592
AKT1
0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 54
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
rs121913530
KRAS
0.583 0.640 12 25245351 missense variant C/A;G;T snv 55
rs13181
KLC3 ; ERCC2
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 134
rs1353702185
MDM2
0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 79
rs16891982
SLC45A2
0.776 0.200 5 33951588 missense variant C/A;G snv 0.65 6
rs17577
SLC12A5-AS1 ; MMP9
0.649 0.520 20 46014472 missense variant G/A;C snv 0.16 30
rs1799793
ERCC2
0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 72
rs2853676
TERT
0.667 0.560 5 1288432 intron variant T/A;C snv 23
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv 306
rs749140677
VDR
0.752 0.240 12 47857185 missense variant G/A snv 8.0E-06 13
rs762846821
TP53
0.614 0.320 17 7675151 missense variant C/A;T snv 8.0E-06 56
rs878854066
TP53
0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs121434569
EGFR-AS1 ; EGFR
0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 70
rs11571833
BRCA2
0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 31
rs361525
TNF
0.562 0.760 6 31575324 upstream gene variant G/A snv 4.6E-02 62
rs1800407
OCA2
0.807 0.200 15 27985172 missense variant C/T snv 4.7E-02 4.9E-02 6
rs1138272
GSTP1
0.611 0.600 11 67586108 missense variant C/T snv 5.9E-02 5.5E-02 42
rs1799782
XRCC1
0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 151
rs885479
MC1R
0.732 0.280 16 89919746 missense variant G/A snv 0.15 8.3E-02 15