Disease: Squamous cell carcinoma
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057520001
TP53
0.677 0.360 17 7674886 missense variant A/C;G snv 23
rs4977756
CDKN2B-AS1
0.683 0.440 9 22068653 intron variant G/A snv 0.64 24
rs876658657
MLH1
0.677 0.280 3 37020356 missense variant A/G snv 4.0E-06 25
rs2853676
TERT
0.667 0.560 5 1288432 intron variant T/A;C snv 29
rs11549467
HIF1A ; HIF1A-AS3
0.653 0.400 14 61740857 missense variant G/A snv 8.9E-03 7.0E-03 30
rs1800734
EPM2AIP1 ; MLH1
0.653 0.400 3 36993455 5 prime UTR variant G/A snv 0.22 30
rs17577
SLC12A5-AS1 ; MMP9
0.649 0.520 20 46014472 missense variant G/A;C snv 0.16 31
rs886039484
TP53
0.641 0.440 17 7674888 missense variant T/C;G snv 32
rs217727
MRPL23 ; HOTS ; H19
0.641 0.480 11 1995678 non coding transcript exon variant G/A snv 0.20 34
rs752742313
PIK3CB
0.637 0.320 3 138655502 missense variant C/T snv 1.2E-05 36
rs920778
HOTAIR
0.633 0.480 12 53966448 intron variant G/A snv 0.57 36
rs1258159645
NQO1
0.630 0.600 16 69711128 missense variant G/A snv 7.0E-06 37
rs1800625
AGER ; PBX2
0.641 0.680 6 32184665 upstream gene variant A/G snv 0.15 39
rs2274223
PLCE1
0.620 0.400 10 94306584 missense variant A/G snv 0.28 0.31 40
rs1138272
GSTP1
0.611 0.600 11 67586108 missense variant C/T snv 5.9E-02 5.5E-02 42
rs401681
CLPTM1L
0.620 0.640 5 1321972 intron variant C/T snv 0.48 42
rs833061
VEGFA
0.605 0.600 6 43769749 upstream gene variant C/G;T snv 42
rs1051730
CHRNA3
0.641 0.600 15 78601997 synonymous variant G/A snv 0.27 0.26 43
rs11571833
BRCA2
0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 43
rs2279744
MDM2
0.605 0.640 12 68808800 intron variant T/G snv 0.31 48
rs2736098
TERT
0.600 0.600 5 1293971 synonymous variant C/T snv 0.29 0.22 48
rs17655
BIVM-ERCC5 ; ERCC5
0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 52
rs17879961
CHEK2
0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 53
rs2228000
XPC
0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 53
rs121434592
AKT1
0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 54