Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057519365 0.851 0.320 17 61780931 frameshift variant TT/- delins 5
rs796096871 0.807 0.200 17 19909228 missense variant TG/CA mnv 6
rs80359596 0.827 0.240 13 32340817 frameshift variant TCTC/-;TC;TCTCTC delins 6
rs8175347 0.708 0.400 2 233760234 intron variant TATA/-;TA;TATATA;TATATATA;TATATATATA;TATATATATATA delins 16
rs1463038513
APC
0.658 0.440 5 112839511 frameshift variant TAAA/- delins 36
rs1800872 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 119
rs1801131 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 93
rs20576 0.637 0.400 8 23200707 missense variant T/G snv 0.15 0.14 34
rs3212227 0.566 0.840 5 159315942 3 prime UTR variant T/G snv 0.26 65
rs397507444 0.405 0.880 1 11794407 missense variant T/G snv 306
rs5361 0.623 0.720 1 169731919 missense variant T/G snv 8.3E-02; 8.0E-06 7.8E-02 47
rs6869366 0.701 0.280 5 83075927 intron variant T/G snv 9.2E-02 18
rs7931342 0.689 0.360 11 69227030 intergenic variant T/G snv 0.58 20
rs7963551 0.807 0.160 12 912349 3 prime UTR variant T/G snv 0.13 7
rs989902 0.742 0.240 4 86785353 missense variant T/G snv 0.42 0.53 12
rs12778366 0.724 0.480 10 67883321 upstream gene variant T/C;G snv 13
rs1800440 0.653 0.440 2 38070996 missense variant T/C;G snv 0.15; 4.0E-06 29
rs2241766 0.608 0.720 3 186853103 synonymous variant T/C;G snv 8.0E-06; 0.13 48
rs61754966
NBN
0.701 0.280 8 89978293 missense variant T/C;G snv 1.2E-03 23
rs6721961 0.672 0.520 2 177265309 intron variant T/C;G snv 0.89 24
rs770460061 0.742 0.240 11 67585239 missense variant T/C;G snv 4.0E-06; 1.2E-05 14
rs1051740 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 56
rs11943456 0.708 0.320 4 55410167 intron variant T/C snv 0.42 18
rs12241008 0.716 0.160 10 112520943 intron variant T/C snv 0.13 16
rs1267969615
ACE
0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 100