Disease: Carcinoma
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs878854066
TP53
0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs1805087
MTR
0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 135
rs13181
KLC3 ; ERCC2
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 134
rs231775
CTLA4
0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 115
rs861539
KLC1 ; XRCC3
0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 104
rs104886003
PIK3CA
0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 71
rs6983267
PCAT1 ; CCAT2 ; CASC8 ; POU5F1B
0.578 0.440 8 127401060 non coding transcript exon variant G/T snv 0.37 62
rs351855
FGFR4
0.597 0.560 5 177093242 missense variant G/A snv 0.33 0.26 58
rs121913482
FGFR3
0.630 0.680 4 1801837 missense variant C/T snv 45
rs121913273
PIK3CA
0.605 0.440 3 179218294 missense variant G/A;C snv 44
rs3212986
CD3EAP ; ERCC1
0.620 0.400 19 45409478 stop gained C/A;G;T snv 0.29; 4.3E-06; 4.3E-06 42
rs752742313
PIK3CB
0.637 0.320 3 138655502 missense variant C/T snv 1.2E-05 36
rs486907
RNASEL
0.667 0.360 1 182585422 missense variant C/T snv 0.31 0.28 32
rs121913483
FGFR3
0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05 31