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
rs10984103 0.925 0.080 9 97876993 TF binding site variant A/C snv 0.68 2
rs7866436 0.925 0.080 9 97887814 intergenic variant G/A snv 0.70 2
rs7902587 0.925 0.080 10 103934543 intergenic variant C/T snv 0.11 2
rs925487 0.925 0.080 9 97874116 regulatory region variant C/A;T snv 2
rs10122541 1.000 0.080 9 97865986 intergenic variant G/A snv 0.68 1
rs1045642
ABCB1
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 214
rs1126667
ALOX12 ; ALOX12-AS1
0.776 0.280 17 6999441 missense variant A/G snv 0.60 0.62 8
rs2245214
ATG5
0.827 0.240 6 106214866 intron variant C/G snv 0.42 6
rs587779826
ATM
0.851 0.360 11 108267344 splice donor variant T/C snv 4.0E-06 5
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
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
rs35187787
CDH1
0.827 0.120 16 68822063 missense variant G/A;T snv 3.3E-03; 2.4E-05 6
rs17879961
CHEK2
0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 53
rs555607708
CHEK2
0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03 33
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