Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1057517846 | 1.000 | 16 | 78108446 | stop gained | G/A | snv | 2 | ||||
rs1554823375 | 0.851 | 0.160 | 10 | 1080454 | missense variant | C/T | snv | 8 | |||
rs587777585 | 0.882 | 6 | 30918851 | missense variant | C/G;T | snv | 2.4E-05 | 6 | |||
rs1057518777 | 15 | 25339239 | splice acceptor variant | -/TGAGATGTAGGTA | delins | 2 | |||||
rs34832477 | 0.925 | 0.120 | 10 | 133293066 | missense variant | G/A | snv | 4.0E-04 | 1.6E-03 | 3 | |
rs886041459 | 0.925 | 0.080 | 16 | 89935140 | missense variant | C/T | snv | 3 | |||
rs121908869 | 0.882 | 0.160 | 14 | 80955802 | missense variant | G/C | snv | 4.0E-05 | 7.0E-06 | 5 | |
rs80356730 | 0.807 | 0.120 | 1 | 11022418 | missense variant | A/G | snv | 8.0E-06 | 7 | ||
rs864309508 | 0.925 | 0.080 | 15 | 25356778 | frameshift variant | CA/- | delins | 4 | |||
rs145536528 | 1.000 | 5 | 160413521 | missense variant | G/A | snv | 1.6E-05 | 3.5E-05 | 3 | ||
rs267607048 | 0.752 | 0.560 | 10 | 110964362 | missense variant | A/G | snv | 7.0E-06 | 16 | ||
rs200345816 | 0.925 | 0.040 | 7 | 102283048 | missense variant | C/G;T | snv | 6.0E-05; 4.0E-06 | 3 | ||
rs587780455 | 0.827 | 0.160 | 12 | 51807116 | missense variant | A/G | snv | 7 | |||
rs1057518801 | 0.851 | 0.080 | 2 | 165130238 | missense variant | A/G | snv | 5 | |||
rs1085307135 | 0.882 | 0.160 | 8 | 143818255 | missense variant | C/T | snv | 5 | |||
rs398123001 | 0.925 | 8 | 143818378 | missense variant | G/A | snv | 4 | ||||
rs28933386 | 0.752 | 0.400 | 12 | 112477719 | missense variant | A/G | snv | 1.2E-05 | 7.0E-06 | 15 | |
rs121909224 | 0.627 | 0.560 | 10 | 87933147 | stop gained | C/G;T | snv | 1.2E-05 | 41 | ||
rs121909231 | 0.667 | 0.600 | 10 | 87961095 | stop gained | C/A;T | snv | 32 | |||
rs121909219 | 0.689 | 0.400 | 10 | 87957915 | stop gained | C/A;T | snv | 25 | |||
rs121913293 | 0.732 | 0.360 | 10 | 87952142 | missense variant | C/A;T | snv | 18 | |||
rs1085308043 | 0.763 | 0.200 | 10 | 87925511 | splice acceptor variant | A/G;T | snv | 12 | |||
rs398122855 | 0.882 | 0.240 | X | 107642384 | missense variant | G/C | snv | 5 | |||
rs774753616 | 1.000 | 20 | 45419351 | missense variant | G/A | snv | 1.2E-05 | 1.4E-05 | 3 | ||
rs730882240 | 1.000 | 0.080 | 16 | 574693 | stop gained | C/T | snv | 2.1E-05 | 3 |