Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 | |||
rs9939609 | 0.559 | 0.720 | 16 | 53786615 | intron variant | T/A | snv | 0.41 | 98 | ||
rs1333049 | 0.614 | 0.520 | 9 | 22125504 | intron variant | G/C | snv | 0.41 | 60 | ||
rs579459 | 0.752 | 0.320 | 9 | 133278724 | upstream gene variant | C/T | snv | 0.81 | 28 | ||
rs599839 | 0.724 | 0.360 | 1 | 109279544 | downstream gene variant | G/A;C | snv | 27 | |||
rs4977574 | 0.695 | 0.520 | 9 | 22098575 | intron variant | A/G;T | snv | 26 | |||
rs765798193 | 0.732 | 0.320 | 12 | 121915884 | frameshift variant | G/-;GG | delins | 18 | |||
rs1122608 | 0.763 | 0.120 | 19 | 11052925 | intron variant | G/T | snv | 0.18 | 16 | ||
rs12938 | 0.851 | 0.160 | 1 | 169691640 | 3 prime UTR variant | A/G | snv | 0.27 | 5 | ||
rs267606743 | 1.000 | 0.160 | 13 | 110192222 | missense variant | C/T | snv | 5 | |||
rs755460305 | 0.882 | 0.080 | 3 | 186732650 | missense variant | C/A | snv | 4 | |||
rs1967309 | 0.925 | 0.080 | 16 | 4015582 | non coding transcript exon variant | A/G | snv | 0.51 | 3 | ||
rs387906853 | 0.925 | 0.040 | 15 | 67181297 | stop gained | G/A;T | snv | 3 | |||
rs2144151 | 20 | 903001 | intron variant | T/G | snv | 0.40 | 1 | ||||
rs313158 | 6 | 85334045 | intergenic variant | A/T | snv | 1.8E-02 | 1 | ||||
rs764821003 | 3 | 30671823 | missense variant | G/A | snv | 1.4E-05 | 1 | ||||
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs14259 | 0.724 | 0.360 | 12 | 121915890 | missense variant | A/C;G | snv | 4.0E-06; 0.32 | 19 | ||
rs763000109 | 0.827 | 0.240 | 6 | 31575788 | missense variant | C/G;T | snv | 4.1E-06; 1.6E-05 | 9 | ||
rs759985000 | 11 | 27700987 | 5 prime UTR variant | G/A;C | snv | 4.2E-06; 8.4E-06 | 2 | ||||
rs112735431 | 0.683 | 0.320 | 17 | 80385145 | missense variant | G/A;C | snv | 2.6E-04; 8.0E-06 | 24 | ||
rs80356814 | 0.732 | 0.320 | 1 | 156138697 | synonymous variant | C/T | snv | 8.0E-06 | 15 | ||
rs749437638 | 0.752 | 0.240 | 22 | 19968597 | missense variant | C/T | snv | 2.4E-05 | 1.4E-05 | 14 | |
rs121918095 | 0.827 | 0.160 | 18 | 31598602 | missense variant | G/A | snv | 7.9E-04 | 2.2E-04 | 6 | |
rs121918027 | 0.827 | 0.320 | 6 | 160738593 | missense variant | G/A | snv | 1.4E-03 | 3.5E-04 | 7 |