Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv 306
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
rs2736100
TERT
0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 83
rs1544410
VDR
0.542 0.760 12 47846052 intron variant C/A;G;T snv 78
rs104894229
LRRC56 ; HRAS
0.564 0.600 11 534289 missense variant C/A;G;T snv 73
rs104894230
HRAS ; LRRC56
0.564 0.600 11 534288 missense variant C/A;G;T snv 73
rs121434568
EGFR
0.568 0.560 7 55191822 missense variant T/A;G snv 73
rs1057519847
EGFR
0.570 0.560 7 55191821 missense variant CT/AG mnv 72
rs1057519848
EGFR
0.570 0.560 7 55191822 missense variant TG/GT mnv 72
rs1056836
CYP1B1
0.581 0.680 2 38071060 missense variant G/C snv 0.51 58
rs20417
PACERR ; PTGS2
0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv 57
rs5275
PTGS2
0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv 55
rs104894228
LRRC56 ; HRAS
0.605 0.560 11 534286 missense variant C/A;G;T snv 48
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
rs401681
CLPTM1L
0.620 0.640 5 1321972 intron variant C/T snv 0.48 42
rs121913233
HRAS ; LRRC56
0.627 0.520 11 533874 missense variant T/A;C;G snv 37
rs121913281
PIK3CA
0.623 0.520 3 179234296 missense variant C/T snv 37
rs28934575
TP53
0.641 0.400 17 7674230 missense variant C/A;G;T snv 37
rs1057519975
TP53
0.649 0.480 17 7675209 missense variant A/C;G;T snv 34
rs397516436
TP53
0.641 0.440 17 7674894 stop gained G/A;C snv 34
rs121913274
PIK3CA
0.645 0.320 3 179218304 missense variant A/C;G;T snv 33
rs689466
PACERR ; PTGS2
0.637 0.640 1 186681619 upstream gene variant T/C snv 0.17 33
rs1982073
TGFB1
0.649 0.640 19 41353016 missense variant G/A;C snv 32