Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs10735810 | 0.662 | 0.640 | 12 | 47879112 | start lost | A/C;G;T | snv | 26 | |||
rs11225395 | 0.776 | 0.360 | 11 | 102725749 | intron variant | A/C;G | snv | 11 | |||
rs1131691014 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 213 | |||
rs121913377 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 480 | |||
rs1544410 | 0.542 | 0.760 | 12 | 47846052 | intron variant | C/A;G;T | snv | 78 | |||
rs1800872 | 0.495 | 0.840 | 1 | 206773062 | 5 prime UTR variant | T/G | snv | 0.69 | 118 | ||
rs2242652 | 0.724 | 0.400 | 5 | 1279913 | intron variant | G/A | snv | 0.18 | 16 | ||
rs28362491 | 0.592 | 0.720 | 4 | 102500998 | non coding transcript exon variant | ATTG/- | delins | 56 | |||
rs2853676 | 0.667 | 0.560 | 5 | 1288432 | intron variant | T/A;C | snv | 23 | |||
rs361525 | 0.562 | 0.760 | 6 | 31575324 | upstream gene variant | G/A | snv | 4.6E-02 | 62 | ||
rs3834129 | 0.627 | 0.560 | 2 | 201232809 | upstream gene variant | AGTAAG/- | del | 0.48 | 38 | ||
rs387906659 | 0.742 | 0.280 | 19 | 40257052 | stop gained | C/A;T | snv | 13 | |||
rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 | |||
rs397514606 | 0.763 | 0.320 | 1 | 243695714 | missense variant | C/T | snv | 13 | |||
rs397517132 | 0.623 | 0.280 | 7 | 55191846 | missense variant | A/T | snv | 48 | |||
rs401618 | 0.827 | 0.120 | 6 | 29982433 | downstream gene variant | A/G;T | snv | 5 | |||
rs4516035 | 0.776 | 0.360 | 12 | 47906043 | non coding transcript exon variant | T/C | snv | 0.31 | 10 | ||
rs4950928 | 0.653 | 0.560 | 1 | 203186754 | upstream gene variant | G/A;C;T | snv | 32 | |||
rs78378222 | 0.662 | 0.360 | 17 | 7668434 | 3 prime UTR variant | T/G | snv | 8.3E-03 | 22 | ||
rs878854066 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 213 | |||
rs927650 | 0.763 | 0.240 | 20 | 54156202 | intron variant | T/A;C | snv | 9 | |||
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs28934578 | 0.605 | 0.600 | 17 | 7675088 | missense variant | C/A;T | snv | 4.0E-06 | 36 | ||
rs113488022 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 484 | ||
rs7041 | 0.576 | 0.800 | 4 | 71752617 | missense variant | A/C;T | snv | 0.52; 4.0E-06 | 61 |