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 | |
rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 | |||
rs121913250 | 0.683 | 0.440 | 1 | 114716127 | missense variant | C/A;G;T | snv | 25 | |||
rs7553007 | 0.827 | 0.120 | 1 | 159728759 | intergenic variant | G/A | snv | 0.31 | 7 | ||
rs1057519698 | 0.827 | 0.120 | 2 | 29222347 | missense variant | A/G;T | snv | 8 | |||
rs1452020002 | 1.000 | 0.080 | 2 | 211947467 | missense variant | G/C;T | snv | 1 | |||
rs1052133 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 147 | |
rs104886003 | 0.562 | 0.440 | 3 | 179218303 | missense variant | G/A;C | snv | 4.0E-06 | 71 | ||
rs752742313 | 0.637 | 0.320 | 3 | 138655502 | missense variant | C/T | snv | 1.2E-05 | 36 | ||
rs773197447 | 1.000 | 0.080 | 4 | 1807159 | missense variant | G/A;C | snv | 3.2E-05; 2.3E-05 | 1 | ||
rs2910164 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 193 | |
rs876660572 | 1.000 | 0.080 | 5 | 112815549 | missense variant | A/G | snv | 7.0E-06 | 2 | ||
rs756090401 | 1.000 | 0.080 | 5 | 112835036 | missense variant | A/G | snv | 8.0E-06 | 1.4E-05 | 1 | |
rs113488022 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 490 | ||
rs121913377 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 480 | |||
rs121434568 | 0.568 | 0.560 | 7 | 55191822 | missense variant | T/A;G | snv | 73 | |||
rs1057519847 | 0.570 | 0.560 | 7 | 55191821 | missense variant | CT/AG | mnv | 72 | |||
rs1057519848 | 0.570 | 0.560 | 7 | 55191822 | missense variant | TG/GT | mnv | 72 | |||
rs121434569 | 0.581 | 0.520 | 7 | 55181378 | missense variant | C/T | snv | 2.8E-05 | 5.6E-05 | 70 | |
rs397517096 | 0.851 | 0.120 | 7 | 55174776 | missense variant | TT/CC | mnv | 4 | |||
rs121913247 | 0.882 | 0.200 | 7 | 116783359 | missense variant | T/C | snv | 3 | |||
rs1345316856 | 1.000 | 0.080 | 8 | 27810979 | missense variant | A/C | snv | 4.0E-06 | 1 | ||
rs4872077 | 1.000 | 0.080 | 8 | 23200675 | intron variant | T/A;C | snv | 0.29 | 1 | ||
rs75873440 | 0.763 | 0.200 | 10 | 43112173 | missense variant | G/A;T | snv | 4.4E-05 | 10 | ||
rs765433422 | 0.807 | 0.160 | 10 | 87952250 | stop gained | G/A;T | snv | 8.0E-06 | 7.0E-06 | 7 |