Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs13181 | 0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 | 134 | ||
rs2476601 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 121 | |
rs187238 | 0.602 | 0.680 | 11 | 112164265 | intron variant | C/A;G | snv | 48 | |||
rs1946518 | 0.602 | 0.760 | 11 | 112164735 | intron variant | T/G | snv | 0.60 | 46 | ||
rs755622 | 0.611 | 0.720 | 22 | 23894205 | intron variant | G/C | snv | 0.26 | 44 | ||
rs12203592 | 0.649 | 0.320 | 6 | 396321 | intron variant | C/T | snv | 0.10 | 38 | ||
rs180177035 | 0.752 | 0.280 | 7 | 140801502 | missense variant | T/C | snv | 35 | |||
rs104894226 | 0.658 | 0.560 | 11 | 534285 | missense variant | C/A;G;T | snv | 29 | |||
rs238406 | 0.677 | 0.480 | 19 | 45365051 | synonymous variant | T/G | snv | 0.58 | 0.65 | 23 | |
rs121908120 | 0.701 | 0.280 | 2 | 218890289 | missense variant | T/A | snv | 1.4E-02 | 1.4E-02 | 19 | |
rs9282858 | 0.716 | 0.320 | 2 | 31580756 | missense variant | C/T | snv | 1.8E-02 | 2.1E-02 | 16 | |
rs2740574 | 0.807 | 0.360 | 7 | 99784473 | upstream gene variant | C/T | snv | 0.78 | 12 | ||
rs116855232 | 0.742 | 0.400 | 13 | 48045719 | missense variant | C/T | snv | 2.8E-02 | 1.1E-02 | 12 | |
rs5934505 | 0.776 | 0.120 | X | 8945785 | intergenic variant | T/A;C | snv | 10 | |||
rs2294020 | 0.763 | 0.280 | X | 49246763 | missense variant | A/G;T | snv | 10 | |||
rs6152 | 0.763 | 0.240 | X | 67545785 | synonymous variant | G/A | snv | 0.15 | 0.28 | 9 | |
rs12373124 | 0.790 | 0.120 | 17 | 45846853 | synonymous variant | T/C | snv | 0.15 | 0.14 | 9 | |
rs1057517491 | 0.776 | 0.240 | 13 | 20189448 | frameshift variant | C/- | delins | 8 | |||
rs201249971 | 0.776 | 0.120 | 3 | 185519292 | missense variant | A/T | snv | 1.6E-04 | 4.9E-05 | 8 | |
rs10930758 | 0.807 | 0.080 | 2 | 176897100 | intergenic variant | A/G;T | snv | 7 | |||
rs11037975 | 0.807 | 0.080 | 11 | 44389312 | intergenic variant | C/A;G | snv | 7 | |||
rs115182912 | 0.807 | 0.080 | 3 | 126274431 | intron variant | G/A | snv | 1.5E-02 | 7 | ||
rs11684254 | 0.807 | 0.080 | 2 | 238787252 | downstream gene variant | C/G | snv | 0.44 | 7 | ||
rs12083887 | 0.807 | 0.080 | 1 | 118339066 | regulatory region variant | A/G | snv | 0.62 | 7 |