Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs25487 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 205
rs3218674
ATM
1.000 0.120 11 108244860 synonymous variant C/G;T snv 1.1E-02 1.1E-02 2
rs355689 1.000 0.040 4 77586643 intron variant T/A;C snv 2
rs3789607 1 113823812 intron variant T/C snv 0.21 1
rs3811021 1.000 0.080 1 113814041 3 prime UTR variant A/G snv 0.15 2
rs387907272 0.572 0.520 3 38141150 stop lost T/C snv 5.2E-05 7.0E-06 73
rs4671393 0.790 0.400 2 60493816 intron variant A/C;G snv 11
rs4880 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 131
rs539846
BMF
1.000 0.120 15 40105735 intron variant G/C;T snv 2
rs604714 0.925 0.120 11 119099986 intron variant C/A snv 0.31 3
rs662 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 157
rs6857600 0.925 0.120 4 88144923 intron variant C/T snv 0.28 3
rs764643047 0.851 0.120 3 9750336 missense variant C/T snv 4.0E-06 5
rs773862672 0.882 0.280 1 11247922 missense variant G/A;C snv 1.2E-05 6
rs78768932
PXN
0.882 0.080 12 120222977 missense variant C/G;T snv 5.4E-03 5.4E-03 6
rs9610 0.882 0.240 11 118001371 3 prime UTR variant G/A;T snv 0.51 4
rs9808753 0.701 0.400 21 33415005 missense variant A/G snv 0.20 0.18 17