Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs113488022 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 490
rs121913377 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
rs121912438 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 58
rs2230926 0.662 0.440 6 137874929 missense variant T/C;G snv 4.0E-06; 5.4E-02 27
rs1057520009 0.790 0.200 2 61492337 missense variant C/T snv 4.4E-06 14
rs104893626 0.827 0.280 2 136114915 stop gained G/C snv 11
rs4671393 0.790 0.400 2 60493816 intron variant A/C;G snv 11
rs17757541 0.827 0.240 18 63212453 intron variant C/G;T snv 7
rs2509049 0.827 0.160 11 119095811 upstream gene variant C/A;T snv 6
rs773862672 0.882 0.280 1 11247922 missense variant G/A;C snv 1.2E-05 6
rs764643047 0.851 0.120 3 9750336 missense variant C/T snv 4.0E-06 5
rs1053023 0.882 0.120 17 42313598 3 prime UTR variant T/A;C snv 4
rs1472503583 0.925 0.160 19 1360712 missense variant C/T snv 4.0E-06 4
rs9610 0.882 0.240 11 118001371 3 prime UTR variant G/A;T snv 0.51 4
rs12566340 0.925 0.200 1 113877706 3 prime UTR variant C/A;T snv 3
rs355689 1.000 0.040 4 77586643 intron variant T/A;C snv 2
rs539846
BMF
1.000 0.120 15 40105735 intron variant G/C;T snv 2
rs1799725 6 159692840 missense variant A/G snv 1
rs387907272 0.572 0.520 3 38141150 stop lost T/C snv 5.2E-05 7.0E-06 73
rs141185042 12 32707409 missense variant A/T snv 4.1E-06 7.0E-06 1
rs149627368
REL
2 60922344 missense variant T/C snv 1.5E-04 1.0E-04 1
rs1800477 0.763 0.480 18 63318540 missense variant C/T snv 1.8E-02 4.9E-03 12
rs78768932
PXN
0.882 0.080 12 120222977 missense variant C/G;T snv 5.4E-03 5.4E-03 6
rs2227945 1.000 0.080 17 43092113 missense variant T/C;G snv 2.5E-03 1.0E-02 2
rs3218674
ATM
1.000 0.120 11 108244860 synonymous variant C/G;T snv 1.1E-02 1.1E-02 2