Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs886040971 | 0.683 | 0.280 | 8 | 115604339 | stop gained | G/A;T | snv | 56 | |||
rs28934906 | 0.716 | 0.320 | X | 154031355 | missense variant | G/A | snv | 46 | |||
rs397507520 | 0.658 | 0.520 | 12 | 112453279 | missense variant | G/C;T | snv | 39 | |||
rs1400419650 | 0.708 | 0.320 | 14 | 92005938 | stop gained | C/A;T | snv | 4.0E-06 | 1.4E-05 | 38 | |
rs1555386022 | 0.708 | 0.320 | 14 | 92003418 | splice donor variant | C/A | snv | 38 | |||
rs387907144 | 0.716 | 0.600 | 6 | 157181056 | stop gained | C/A;T | snv | 34 | |||
rs113871094 | 0.683 | 0.320 | 15 | 48465820 | stop gained | G/A | snv | 34 | |||
rs1557781252 | 0.742 | 0.320 | 1 | 153816414 | stop gained | G/A | snv | 33 | |||
rs80338945 | 0.695 | 0.440 | 13 | 20189313 | missense variant | A/G | snv | 6.4E-04 | 6.4E-04 | 32 | |
rs387907141 | 0.752 | 0.360 | 6 | 157181137 | stop gained | C/T | snv | 24 | |||
rs1558373252 | 0.790 | 0.120 | 2 | 5693013 | frameshift variant | T/- | delins | 19 | |||
rs397517154 | 0.763 | 0.280 | 2 | 39022773 | missense variant | C/A;G;T | snv | 4.0E-06 | 16 | ||
rs1554196416 | 0.851 | 0.200 | 6 | 78958551 | stop gained | G/A | snv | 15 | |||
rs1064797102 | 0.827 | 0.120 | 8 | 91071136 | splice acceptor variant | A/G | snv | 15 | |||
rs1555528356 | 0.790 | 0.360 | 16 | 89282836 | stop gained | G/A | snv | 13 | |||
rs1555649483 | 0.851 | 0.200 | 17 | 67909751 | splice donor variant | GAAGGACCAAGG/- | del | 12 | |||
rs876657380 | 0.851 | 0.360 | 6 | 157181155 | frameshift variant | AA/- | delins | 11 | |||
rs1057521737 | 0.827 | 0.240 | 22 | 41173768 | missense variant | T/C | snv | 11 | |||
rs1567263168 | 0.851 | 0.240 | 16 | 3729444 | missense variant | C/T | snv | 10 | |||
rs139073416 | 0.882 | 0.240 | 1 | 26795056 | missense variant | C/A;T | snv | 1.2E-04 | 9 | ||
rs886041239 | 1.000 | 0.160 | 10 | 110593202 | missense variant | A/G | snv | 9 | |||
rs879253745 | 0.925 | 0.240 | 6 | 157181040 | frameshift variant | AA/- | delins | 6 | |||
rs879253746 | 0.925 | 0.240 | 6 | 157200866 | frameshift variant | -/T | delins | 6 | |||
rs879253747 | 0.925 | 0.240 | 6 | 157167101 | stop gained | C/T | snv | 6 | |||
rs879253856 | 0.925 | 0.240 | 6 | 157110496 | frameshift variant | CCG/TCCGCAGCCACTCC | delins | 6 |