Disease: melanoma
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121913366
BRAF
0.763 0.400 7 140753345 missense variant A/C;T snv 12
rs121913370
BRAF
0.763 0.360 7 140753393 missense variant T/C;G snv 10
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
rs121913403
CTNNB1
0.683 0.240 3 41224622 missense variant C/A;G;T snv 23
rs121913407
CTNNB1
0.763 0.240 3 41224645 missense variant T/C;G snv 12
rs121913409
CTNNB1
0.708 0.400 3 41224646 missense variant C/A;G;T snv 21
rs121913499
IDH1
0.605 0.520 2 208248389 missense variant G/A;C;T snv 51
rs121913529
KRAS
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 144
rs121913530
KRAS
0.583 0.640 12 25245351 missense variant C/A;G;T snv 63
rs1353702185
MDM2
0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 79
rs1444669684
CDKN2B-AS1 ; CDKN2A
0.658 0.480 9 21994285 missense variant C/A;T snv 36
rs2853676
TERT
0.667 0.560 5 1288432 intron variant T/A;C snv 29
rs28931589
CTNNB1
0.695 0.240 3 41224613 missense variant G/A;C;T snv 17
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv 306
rs397507484
BRAF
0.752 0.480 7 140753333 missense variant T/A;C;G snv 10
rs397516896
BRAF
0.763 0.360 7 140753355 missense variant C/G;T snv 11
rs397517132
EGFR
0.623 0.280 7 55191846 missense variant A/T snv 48
rs7041
GC
0.576 0.800 4 71752617 missense variant A/C;T snv 0.52; 4.0E-06 64
rs762846821
TP53
0.614 0.320 17 7675151 missense variant C/A;T snv 8.0E-06 57
rs77375493
INSL6 ; JAK2
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 187
rs869025608
MAP2K1
0.763 0.400 15 66435117 missense variant G/C;T snv 9
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 43