Disease: melanoma
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs36115365 0.807 0.160 5 1313127 upstream gene variant G/A;C;T snv 7
rs121434592
AKT1
0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 54
rs1801516
ATM
0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11 39
rs17655
BIVM-ERCC5 ; ERCC5
0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 52
rs1057519720
BRAF
0.851 0.080 7 140781602 missense variant CC/AA;GA mnv 4
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 490
rs121913348
BRAF
0.763 0.480 7 140781617 missense variant C/A;G;T snv 20
rs121913351
BRAF
0.776 0.240 7 140781611 missense variant C/A;G;T snv 4.0E-06 9
rs121913355
BRAF
0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 42
rs121913366
BRAF
0.763 0.400 7 140753345 missense variant A/C;T snv 12
rs121913369
BRAF
0.790 0.280 7 140753346 missense variant G/A;C snv 4.0E-06 12
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
rs1225976306
BRAF ; LOC105375536
0.807 0.160 7 140924673 missense variant C/T snv 9.3E-06 8
rs11571833
BRCA2
0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 43
rs3834129
CASP8
0.627 0.560 2 201232809 upstream gene variant AGTAAG/- del 0.48 38
rs3731249
CDKN2A
0.683 0.320 9 21970917 missense variant C/A;G;T snv 2.1E-02 23
rs1444669684
CDKN2B-AS1 ; CDKN2A
0.658 0.480 9 21994285 missense variant C/A;T snv 36
rs1051730
CHRNA3
0.641 0.600 15 78601997 synonymous variant G/A snv 0.27 0.26 43
rs401681
CLPTM1L
0.620 0.640 5 1321972 intron variant C/T snv 0.48 42
rs397517132
EGFR
0.623 0.280 7 55191846 missense variant A/T snv 48
rs121434569
EGFR-AS1 ; EGFR
0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 70
rs1799793
ERCC2
0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 72
rs7041
GC
0.576 0.800 4 71752617 missense variant A/C;T snv 0.52; 4.0E-06 64
rs1138272
GSTP1
0.611 0.600 11 67586108 missense variant C/T snv 5.9E-02 5.5E-02 42
rs1695
GSTP1
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 188