Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs2621416 0.882 0.280 6 32774091 intergenic variant T/C snv 0.26 4
rs2647045 6 32700323 TF binding site variant G/A snv 0.27 1
rs4530903 6 32614112 intergenic variant C/T snv 0.10 1
rs11466782
ADAM19
0.925 0.120 5 157494947 intron variant A/G snv 0.10 3
rs1057519781
ALK
0.807 0.160 2 29209816 missense variant C/G snv 9
rs2231231
AQP3
0.851 0.240 9 33442988 non coding transcript exon variant A/C snv 0.67 0.69 5
rs17655
BIVM-ERCC5 ; ERCC5
0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 52
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 490
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
rs1883832
CD40
0.581 0.680 20 46118343 5 prime UTR variant T/C snv 0.75 0.80 52
rs2466571
CD46
0.925 0.120 1 207766701 intron variant G/T snv 0.46 3
rs751837
CDC42BPB
0.882 0.120 14 103018488 intron variant T/C snv 0.23 4
rs11547328
CDK4
0.701 0.360 12 57751648 missense variant G/A;T snv 4.0E-06 27
rs10190751
CFLAR-AS1 ; CFLAR
0.882 0.120 2 201141373 splice acceptor variant G/A snv 0.18 0.26 4
rs74790047
CHD4
0.851 0.120 12 6601978 missense variant A/C;G snv 2.0E-05; 1.2E-04; 5.2E-03 1.7E-03 7
rs555607708
CHEK2
0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03 33
rs4073
CXCL8
0.566 0.800 4 73740307 upstream gene variant A/T snv 0.46 64
rs2227307
CXCL8
0.851 0.240 4 73740952 intron variant T/G snv 0.45 6
rs1802710
DLK1
14 100734308 synonymous variant T/A;C snv 0.63 3
rs1799793
ERCC2
0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 72
rs867329357
ERCC5 ; BIVM-ERCC5
0.925 0.120 13 102872275 missense variant G/A snv 4.0E-06 4.9E-05 3
rs267601394
EZH2
0.807 0.200 7 148811635 missense variant T/A;G snv 8
rs267601395
EZH2
0.925 0.160 7 148811636 missense variant A/G;T snv 7
rs1057519833
EZH2
0.925 0.120 7 148809375 missense variant G/C snv 3
rs121913482
FGFR3
0.630 0.680 4 1801837 missense variant C/T snv 45