Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs747115965 | 1.000 | 0.120 | 8 | 42288641 | missense variant | G/A | snv | 4.0E-06 | 1 | ||
rs766356689 | 1.000 | 0.120 | 8 | 42316740 | missense variant | A/C;G | snv | 4.0E-05; 4.0E-06 | 1 | ||
rs1444669684 | 0.658 | 0.480 | 9 | 21994285 | missense variant | C/A;T | snv | 36 | |||
rs121909235 | 0.851 | 0.240 | 10 | 87957919 | missense variant | G/A | snv | 8 | |||
rs9420907 | 0.790 | 0.320 | 10 | 103916707 | intron variant | C/A;G | snv | 7 | |||
rs989461497 | 1.000 | 0.120 | 10 | 101799396 | missense variant | C/T | snv | 7.0E-06 | 1 | ||
rs1322648460 | 0.776 | 0.320 | 11 | 35139332 | frameshift variant | G/- | delins | 9 | |||
rs1481868107 | 1.000 | 0.120 | 11 | 65654980 | missense variant | T/C | snv | 1 | |||
rs770882250 | 1.000 | 0.120 | 11 | 65655757 | missense variant | T/C | snv | 2.4E-05 | 7.0E-06 | 1 | |
rs121913529 | 0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 | 144 | ||
rs121913530 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 63 | |||
rs746284240 | 0.763 | 0.240 | 12 | 68809243 | missense variant | A/G | snv | 11 | |||
rs1399364791 | 0.882 | 0.240 | 12 | 55967046 | missense variant | G/A | snv | 4.0E-06 | 3 | ||
rs774207364 | 1.000 | 0.120 | 12 | 861184 | missense variant | G/A;C | snv | 4.0E-06; 4.0E-06 | 1 | ||
rs11571833 | 0.608 | 0.360 | 13 | 32398489 | stop gained | A/T | snv | 6.6E-03 | 6.0E-03 | 43 | |
rs80358972 | 0.742 | 0.480 | 13 | 32356472 | stop gained | C/A;T | snv | 8.0E-06; 3.2E-05 | 12 | ||
rs2057482 | 0.701 | 0.440 | 14 | 61747130 | 3 prime UTR variant | T/C | snv | 0.84 | 0.80 | 21 | |
rs1130233 | 0.742 | 0.480 | 14 | 104773557 | synonymous variant | C/T | snv | 0.30 | 0.23 | 13 | |
rs1284806277 | 0.827 | 0.200 | 14 | 102251978 | missense variant | A/G | snv | 1.4E-05 | 13 | ||
rs1430452530 | 0.851 | 0.160 | 14 | 61721518 | missense variant | A/G | snv | 4.0E-06 | 5 | ||
rs11845046 | 1.000 | 0.120 | 14 | 39246997 | missense variant | A/G | snv | 0.22 | 0.20 | 2 | |
rs1228616597 | 1.000 | 0.120 | 14 | 105168394 | frameshift variant | A/- | delins | 1 | |||
rs1315916121 | 1.000 | 0.120 | 14 | 105168390 | frameshift variant | G/- | delins | 1 | |||
rs151341424 | 0.925 | 0.120 | 15 | 74190856 | missense variant | CC/TT | mnv | 3 | |||
rs118203958 | 1.000 | 0.120 | 15 | 74190889 | missense variant | G/A | snv | 4.0E-06 | 1.4E-05 | 1 |