Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs944289 0.742 0.200 14 36180040 upstream gene variant C/T snv 0.45 16
rs116909374 0.776 0.120 14 36269155 regulatory region variant C/T snv 2.3E-02 11
rs6013897 0.790 0.200 20 54125940 regulatory region variant T/A snv 0.23 7
rs907580 0.851 0.080 9 97860315 downstream gene variant T/A;C;G snv 4
rs2145418 0.882 0.080 1 118422631 intergenic variant C/A snv 0.78 3
rs1064795638
BAP1
0.851 0.080 3 52403251 stop gained G/A snv 7
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
rs121913364
BRAF
0.641 0.520 7 140753334 missense variant T/C;G snv 4.0E-06 34
rs121913365
BRAF
0.776 0.320 7 140753332 missense variant T/A;G snv 10
rs397507484
BRAF
0.752 0.480 7 140753333 missense variant T/A;C;G snv 10
rs747463591
CCDC6
0.882 0.080 10 59906391 missense variant C/A;G;T snv 4.9E-06; 9.9E-06 3
rs9344
CCND1
0.653 0.480 11 69648142 splice region variant G/A snv 0.45 0.39 34
rs5443
CDCA3 ; GNB3
0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44 106
rs17879961
CHEK2
0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 53
rs778212685
CHEK2
0.827 0.120 22 28712015 missense variant C/A;G;T snv 4.0E-06 8
rs786203472
CHEK2
0.827 0.120 22 28719414 start lost T/C snv 5
rs863224748
CHEK2
0.827 0.120 22 28734721 start lost T/C snv 5
rs78929565
CLOCK
0.882 0.080 4 55539035 intron variant C/A;T snv 3
rs231775
CTLA4
0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 115
rs1207011218
CTLA4
0.742 0.440 2 203870794 synonymous variant C/T snv 12
rs2060793
CYP2R1
0.776 0.240 11 14893764 upstream gene variant A/G snv 0.63 11
rs373646414
DICER1
1.000 0.080 14 95132574 missense variant T/C snv 1.6E-05 5.6E-05 2
rs966423
DIRC3
0.776 0.200 2 217445617 intron variant C/G;T snv 11
rs397517132
EGFR
0.623 0.280 7 55191846 missense variant A/T snv 48