Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
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
rs1800896 0.507 0.800 1 206773552 intron variant T/C snv 0.41 113
rs172378 0.790 0.240 1 22638945 synonymous variant A/G snv 0.49 0.51 11
rs12711521 0.807 0.240 1 11030859 missense variant C/A snv 0.74 0.63 7
rs1308699981 0.807 0.440 1 161543085 missense variant G/A snv 4.0E-06 7
rs587776632 0.925 0.120 1 85267901 frameshift variant A/-;AAA delins 2
rs372411058 1.000 0.120 1 161626395 synonymous variant C/T snv 2.0E-05 4.2E-05 1
rs587776633 1.000 0.120 1 85270732 frameshift variant -/T delins 1
rs587776634 1.000 0.120 1 85267788 frameshift variant TGCCTACTTCTAGAACA/- del 1
rs587776635 1.000 0.120 1 85267919 frameshift variant T/- delins 1
rs587776636 1.000 0.120 1 85267930 frameshift variant -/A delins 1
rs587776637 1.000 0.120 1 85267692 inframe deletion TCT/- delins 1
rs10190751 0.882 0.120 2 201141373 splice acceptor variant G/A snv 0.18 0.26 4
rs3789068 0.925 0.120 2 111151670 intron variant A/G snv 0.41 2
rs387907272 0.572 0.520 3 38141150 stop lost T/C snv 5.2E-05 7.0E-06 73
rs568408 0.649 0.600 3 159995680 3 prime UTR variant G/A snv 0.16 29
rs6444305
LPP
0.925 0.120 3 188582114 intron variant G/A;C;T snv 2
rs20541 0.585 0.720 5 132660272 missense variant A/G snv 0.72 0.77 52
rs1805377 0.689 0.480 5 83353124 splice acceptor variant G/A snv 0.23 0.25 19
rs1494555 0.790 0.120 5 35871088 missense variant G/A snv 0.64 0.72 8
rs1056503 0.851 0.200 5 83353158 synonymous variant T/A;G snv 4.0E-06; 0.23 4
rs9275572 0.724 0.360 6 32711222 upstream gene variant A/G;T snv 15
rs9268853 0.790 0.440 6 32461866 intron variant T/C snv 0.29 10
rs2647012 0.790 0.320 6 32696681 intergenic variant T/C snv 0.64 7