Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs121434265 | 0.925 | 0.080 | 1 | 193125142 | stop gained | C/G | snv | 1 | |||
rs1057519883 | 0.742 | 0.280 | 9 | 21971120 | missense variant | C/G;T | snv | 12 | |||
rs1057520039 | 0.882 | 0.200 | 19 | 1207169 | stop gained | C/G;T | snv | 2 | |||
rs1801278 | 0.637 | 0.560 | 2 | 226795828 | missense variant | C/G;T | snv | 4.0E-06; 5.2E-02 | 2 | ||
rs121913482 | 0.630 | 0.680 | 4 | 1801837 | missense variant | C/T | snv | 35 | |||
rs121434592 | 0.595 | 0.640 | 14 | 104780214 | missense variant | C/T | snv | 4.0E-06 | 2 | ||
rs56391007 | 0.752 | 0.200 | 7 | 116771936 | missense variant | C/T | snv | 7.9E-03 | 9.0E-03 | 2 | |
rs202003805 | 0.827 | 0.120 | 7 | 142750561 | missense variant | C/T | snv | 9.0E-05 | 1 | ||
rs2070744 | 0.608 | 0.680 | 7 | 150992991 | intron variant | C/T | snv | 0.70 | 1 | ||
rs486907 | 0.667 | 0.360 | 1 | 182585422 | missense variant | C/T | snv | 0.31 | 0.28 | 1 | |
rs121913377 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 2 | |||
rs1057519855 | 0.776 | 0.120 | 11 | 533873 | missense variant | CT/AC;TC | mnv | 1 | |||
rs1057519847 | 0.570 | 0.560 | 7 | 55191821 | missense variant | CT/AG | mnv | 1 | |||
rs786202724 | 0.925 | 0.120 | 7 | 116777403 | missense variant | G/A | snv | 7.0E-06 | 5 | ||
rs351855 | 0.597 | 0.560 | 5 | 177093242 | missense variant | G/A | snv | 0.33 | 0.26 | 4 | |
rs861539 | 0.519 | 0.680 | 14 | 103699416 | missense variant | G/A | snv | 0.29 | 0.30 | 1 | |
rs121912651 | 0.605 | 0.680 | 17 | 7674221 | missense variant | G/A;C | snv | 4.0E-06 | 37 | ||
rs104886003 | 0.562 | 0.440 | 3 | 179218303 | missense variant | G/A;C | snv | 4.0E-06 | 35 | ||
rs121913273 | 0.605 | 0.440 | 3 | 179218294 | missense variant | G/A;C | snv | 25 | |||
rs121913671 | 0.882 | 0.160 | 7 | 116783353 | missense variant | G/A;C | snv | 3 | |||
rs1801166 | 0.732 | 0.200 | 5 | 112839543 | missense variant | G/C | snv | 4.4E-03 | 5.6E-03 | 1 | |
rs6983267 | 0.578 | 0.440 | 8 | 127401060 | non coding transcript exon variant | G/T | snv | 0.37 | 13 | ||
rs121913480 | 1.000 | 0.120 | 4 | 1806604 | missense variant | G/T | snv | 2 | |||
rs1801155 | 0.649 | 0.440 | 5 | 112839514 | missense variant | T/A | snv | 8.0E-06; 2.0E-03 | 1.2E-03 | 10 | |
rs121913233 | 0.627 | 0.520 | 11 | 533874 | missense variant | T/A;C;G | snv | 21 |