Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1131691014 0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs878854066 0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs386747134 0.882 0.120 10 103458495 missense variant AGC/GGT mnv 3
rs281865161
APP
0.925 0.080 21 25897626 missense variant TC/GA mnv 2
rs1365504296 1.000 0.080 1 157524520 frameshift variant GGGAG/- del 1
rs1455460144 1.000 0.080 10 49625580 frameshift variant A/- del 7.0E-06 1
rs1799752
ACE
0.677 0.480 17 63488529 intron variant -/TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT delins 25
rs10524523 0.807 0.200 19 44899792 intron variant TTTTTTTTTTTTTTTTTTTTTTT/-;T;TT;TTT;TTTT;TTTTT;TTTTTT;TTTTTTT;TTTTTTTT;TTTTTTTTT;TTTTTTTTTT;TTTTTTTTTTT;TTTTTTTTTTTT;TTTTTTTTTTTTT;TTTTTTTTTTTTTT;TTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT delins 7
rs28363170 0.827 0.120 5 1393745 3 prime UTR variant -/AGTGGGGGCCCTGCATGCGTCCTGGGGTAGTACACGCTCC delins 8.1E-06 7
rs3216733 0.882 0.240 9 125241510 upstream gene variant CC/-;C;CCC;CCCC delins 3
rs760832624 0.882 0.120 10 103458488 frameshift variant CAGCGGCC/- delins 3
rs3832852 0.925 0.080 12 9093581 splice acceptor variant ATGGT/- delins 2
rs11568822 1.000 0.080 19 44914381 5 prime UTR variant -/CGTT delins 1
rs1566638673 1.000 0.080 14 73186881 inframe insertion -/TAT delins 1
rs397780637 1.000 0.080 22 38057199 5 prime UTR variant G/- delins 1
rs747604554 1.000 0.080 3 10065441 frameshift variant TT/- delins 4.0E-06 1
rs1217691063 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs397507444 0.405 0.880 1 11794407 missense variant T/G snv 306
rs6265 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 272
rs1800562 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 262
rs4680 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 249
rs1799983 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 246
rs1042522 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs759834365 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 237
rs1799945 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 226