Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1352010373 | 0.641 | 0.560 | 17 | 75489265 | splice acceptor variant | G/C | snv | 73 | |||
rs28362491 | 0.592 | 0.720 | 4 | 102500998 | non coding transcript exon variant | ATTG/- | delins | 56 | |||
rs121918455 | 0.695 | 0.440 | 12 | 112477720 | missense variant | A/C;G | snv | 31 | |||
rs1294950721 | 0.807 | 0.360 | 20 | 10645355 | splice donor variant | C/A;T | snv | 7.0E-06 | 27 | ||
rs12190287 | 0.708 | 0.280 | 6 | 133893387 | 3 prime UTR variant | C/G;T | snv | 19 | |||
rs912001256 | 0.851 | 0.240 | 17 | 63947062 | stop gained | G/A | snv | 17 | |||
rs1555565774 | 0.807 | 0.360 | 17 | 44862753 | frameshift variant | G/- | delins | 16 | |||
rs483352822 | 0.776 | 0.360 | 1 | 155904470 | stop lost | C/A;G;T | snv | 16 | |||
rs1057518914 | 0.790 | 0.160 | X | 20193547 | missense variant | G/C | snv | 14 | |||
rs121918466 | 0.752 | 0.280 | 12 | 112450416 | missense variant | A/G | snv | 14 | |||
rs1555038029 | 0.776 | 0.400 | 11 | 118477973 | stop gained | C/A | snv | 12 | |||
rs180177039 | 0.851 | 0.160 | 7 | 140778006 | missense variant | T/A;C;G | snv | 12 | |||
rs137852813 | 0.807 | 0.200 | 2 | 39051202 | missense variant | A/C;G | snv | 11 | |||
rs1557612048 | 0.807 | 0.200 | 1 | 26767868 | missense variant | T/C | snv | 11 | |||
rs1555564126 | 0.882 | 0.320 | 17 | 44853306 | frameshift variant | C/- | delins | 9 | |||
rs104894073 | 0.827 | 0.080 | 8 | 11750213 | missense variant | G/A;C;T | snv | 8 | |||
rs587777710 | 0.807 | 0.160 | 18 | 22171856 | stop gained | G/T | snv | 8 | |||
rs1554643168 | 0.851 | 0.160 | 8 | 143818077 | splice acceptor variant | T/C;G | snv | 7 | |||
rs1564062144 | 1.000 | 9 | 83972190 | splice acceptor variant | C/T | snv | 7 | ||||
rs113331868 | 5 | 150228191 | splice donor variant | C/A;T | snv | 6 | |||||
rs804280 | 0.882 | 0.120 | 8 | 11755189 | intron variant | C/A;G | snv | 6 | |||
rs1057516039 | 0.882 | 0.280 | 12 | 49029400 | splice donor variant | C/T | snv | 5 | |||
rs10465885 | 0.882 | 0.080 | 1 | 147760632 | intron variant | T/A;C | snv | 4 | |||
rs1057516047 | 0.882 | 0.120 | 2 | 47073816 | stop gained | C/T | snv | 4 | |||
rs1114167294 | 0.925 | 6 | 41587455 | frameshift variant | T/- | del | 4 |