Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs966423 | 0.776 | 0.200 | 2 | 217445617 | intron variant | C/G;T | snv | 11 | |||
rs965513 | 0.742 | 0.200 | 9 | 97793827 | intron variant | A/G;T | snv | 15 | |||
rs944289 | 0.742 | 0.200 | 14 | 36180040 | upstream gene variant | C/T | snv | 0.45 | 16 | ||
rs9344 | 0.653 | 0.480 | 11 | 69648142 | splice region variant | G/A | snv | 0.45 | 0.39 | 34 | |
rs907580 | 0.851 | 0.080 | 9 | 97860315 | downstream gene variant | T/A;C;G | snv | 4 | |||
rs878854066 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 213 | |||
rs863224748 | 0.827 | 0.120 | 22 | 28734721 | start lost | T/C | snv | 5 | |||
rs861539 | 0.519 | 0.680 | 14 | 103699416 | missense variant | G/A | snv | 0.29 | 0.30 | 104 | |
rs861530 | 0.732 | 0.320 | 14 | 103707786 | 3 prime UTR variant | T/C | snv | 0.65 | 13 | ||
rs79658334 | 0.662 | 0.360 | 10 | 43119548 | missense variant | G/A;C;T | snv | 1.2E-04; 4.3E-06 | 29 | ||
rs78929565 | 0.882 | 0.080 | 4 | 55539035 | intron variant | C/A;T | snv | 3 | |||
rs786203472 | 0.827 | 0.120 | 22 | 28719414 | start lost | T/C | snv | 5 | |||
rs7850258 | 0.827 | 0.200 | 9 | 97786731 | intron variant | A/G | snv | 0.72 | 6 | ||
rs78201625 | 0.851 | 0.080 | 10 | 113577182 | missense variant | C/T | snv | 2.4E-03 | 1.8E-03 | 4 | |
rs779791579 | 0.882 | 0.080 | 9 | 95508325 | missense variant | G/C | snv | 7.8E-04 | 6.1E-04 | 3 | |
rs778212685 | 0.827 | 0.120 | 22 | 28712015 | missense variant | C/A;G;T | snv | 4.0E-06 | 8 | ||
rs776935407 | 0.851 | 0.080 | 22 | 40409261 | missense variant | T/A | snv | 4.1E-06 | 6 | ||
rs768891111 | 0.851 | 0.080 | 14 | 103699474 | stop gained | C/A;G;T | snv | 4.0E-06; 4.0E-06 | 4 | ||
rs763538721 | 0.807 | 0.160 | 14 | 61740897 | missense variant | T/A | snv | 4.0E-06 | 8 | ||
rs75076352 | 0.689 | 0.240 | 10 | 43114500 | missense variant | T/A;C;G | snv | 1.2E-05 | 24 | ||
rs74799832 | 0.662 | 0.280 | 10 | 43121968 | missense variant | T/C | snv | 4.0E-06 | 33 | ||
rs747463591 | 0.882 | 0.080 | 10 | 59906391 | missense variant | C/A;G;T | snv | 4.9E-06; 9.9E-06 | 3 | ||
rs71369530 | 0.851 | 0.080 | 9 | 97854419 | inframe insertion | GCCGCCGCCGCCGCCGCCGCCGCC/-;GCC;GCCGCC;GCCGCCGCC;GCCGCCGCCGCC;GCCGCCGCCGCCGCC;GCCGCCGCCGCCGCCGCC;GCCGCCGCCGCCGCCGCCGCC;GCCGCCGCCGCCGCCGCCGCCGCCGCC;GCCGCCGCCGCCGCCGCCGCCGCCGCCGCC;GCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC;GCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC;GCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC | delins | 0.68 | 4 | ||
rs709399 | 0.882 | 0.080 | 14 | 103701208 | 3 prime UTR variant | G/A | snv | 0.59 | 0.61 | 3 | |
rs7080536 | 0.683 | 0.360 | 10 | 113588287 | missense variant | G/A | snv | 2.2E-02 | 2.4E-02 | 27 |