Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs12711846 | 0.851 | 0.160 | 2 | 111098716 | non coding transcript exon variant | A/G | snv | 0.26 | 4 | ||
rs121913255 | 0.667 | 0.400 | 1 | 114713907 | missense variant | T/A;G | snv | 26 | |||
rs11554290 | 0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv | 59 | |||
rs121913237 | 0.611 | 0.560 | 1 | 114716126 | missense variant | C/A;G;T | snv | 8.0E-06 | 50 | ||
rs121913250 | 0.683 | 0.440 | 1 | 114716127 | missense variant | C/A;G;T | snv | 25 | |||
rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 | |||
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs4525246 | 0.851 | 0.160 | 11 | 123524538 | intron variant | G/A;C | snv | 4 | |||
rs2456449 | 0.827 | 0.280 | 8 | 127180736 | intron variant | A/G | snv | 0.30 | 5 | ||
rs2720680 | 0.851 | 0.160 | 8 | 128102971 | intron variant | A/G | snv | 0.33 | 4 | ||
rs11715604 | 0.851 | 0.160 | 3 | 136870707 | intron variant | A/G;T | snv | 4 | |||
rs121913377 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 480 | |||
rs113488022 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 490 | ||
rs121913338 | 0.677 | 0.400 | 7 | 140753354 | missense variant | T/A;C;G | snv | 24 | |||
rs397516896 | 0.763 | 0.360 | 7 | 140753355 | missense variant | C/G;T | snv | 11 | |||
rs73005220 | 0.851 | 0.160 | 19 | 16161878 | intron variant | A/G | snv | 3.9E-02 | 4 | ||
rs12638862 | 0.827 | 0.160 | 3 | 169759718 | downstream gene variant | A/G | snv | 0.24 | 10 | ||
rs10936599 | 0.637 | 0.600 | 3 | 169774313 | synonymous variant | C/T | snv | 0.29 | 0.21 | 32 | |
rs13069553 | 0.851 | 0.200 | 3 | 169790484 | upstream gene variant | A/G | snv | 0.21 | 4 | ||
rs4459895 | 0.827 | 0.160 | 3 | 188236626 | intron variant | A/C | snv | 0.88 | 5 | ||
rs149207840 | 0.851 | 0.160 | 2 | 230279864 | intron variant | CTGCCTC/-;CTGCCTCCTGCCTC | delins | 0.15 | 4 | ||
rs17851045 | 0.672 | 0.400 | 12 | 25227341 | missense variant | T/A;G | snv | 4.0E-06 | 27 | ||
rs121913240 | 0.672 | 0.440 | 12 | 25227342 | missense variant | T/A;C;G | snv | 24 | |||
rs121913529 | 0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 | 144 | ||
rs6546149 | 0.851 | 0.160 | 2 | 25406569 | intron variant | C/G | snv | 0.38 | 4 |