Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs149617956 | 0.672 | 0.560 | 3 | 69964940 | missense variant | G/A | snv | 1.4E-03 | 1.6E-03 | 12 | |
rs1060505041 | 0.716 | 0.400 | 19 | 13136099 | missense variant | C/A;T | snv | 34 | |||
rs1043679457 | 0.752 | 0.400 | 5 | 60927745 | intron variant | C/A;G;T | snv | 33 | |||
rs1135401778 | 0.752 | 0.400 | 17 | 67854315 | frameshift variant | T/- | del | 20 | |||
rs267607048 | 0.752 | 0.560 | 10 | 110964362 | missense variant | A/G | snv | 7.0E-06 | 12 | ||
rs1553920379 | 0.776 | 0.160 | 4 | 101032294 | frameshift variant | -/AGTA | delins | 27 | |||
rs797045412 | 0.776 | 0.280 | 9 | 92718565 | missense variant | G/A;T | snv | 17 | |||
rs144078282 | 0.776 | 0.400 | 11 | 72302339 | missense variant | T/A;C | snv | 1.8E-04; 2.0E-04 | 9 | ||
rs200203460 | 0.776 | 0.400 | 11 | 72302312 | stop gained | G/A;C;T | snv | 2.8E-05 | 9 | ||
rs1564341846 | 0.790 | 0.280 | 9 | 131508926 | missense variant | C/A | snv | 8 | |||
rs1553154130 | 0.807 | 0.280 | 1 | 8358231 | missense variant | T/A;C | snv | 18 | |||
rs72555360 | 0.807 | 0.280 | 3 | 33058221 | missense variant | G/A | snv | 4.4E-05 | 6.3E-05 | 8 | |
rs1567815105 | 0.807 | 0.240 | 16 | 57660794 | frameshift variant | -/T | delins | 7 | |||
rs796052676 | 0.807 | 0.200 | 8 | 132180246 | missense variant | G/A | snv | 7 | |||
rs886039903 | 0.807 | 0.200 | 3 | 192335434 | missense variant | C/T | snv | 4 | |||
rs1559759089 | 0.827 | 0.200 | 3 | 113795101 | missense variant | C/A | snv | 14 | |||
rs1135402761 | 0.827 | 0.320 | 12 | 79448958 | missense variant | T/C | snv | 11 | |||
rs886041095 | 0.827 | 0.160 | 12 | 13571930 | missense variant | C/T | snv | 11 | |||
rs869312702 | 0.827 | 0.160 | 9 | 128203609 | missense variant | G/A | snv | 10 | |||
rs1568359734 | 0.827 | 0.240 | 18 | 33738903 | frameshift variant | A/- | delins | 8 | |||
rs371582179 | 0.827 | 0.280 | 3 | 33014057 | missense variant | T/C | snv | 3.6E-05 | 6.3E-05 | 7 | |
rs863225082 | 0.827 | 0.160 | 6 | 43007265 | missense variant | G/A | snv | 7 | |||
rs886041093 | 0.827 | 0.280 | 9 | 137815998 | missense variant | G/A | snv | 7 | |||
rs56144125 | 0.827 | 0.240 | 11 | 6617154 | splice acceptor variant | C/A;G;T | snv | 4.0E-04; 1.2E-05 | 6 | ||
rs797045140 | 0.827 | 0.200 | X | 53238308 | splice region variant | TG/- | delins | 6 |