Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1085307993 | 0.716 | 0.440 | 5 | 161331056 | missense variant | C/T | snv | 53 | |||
rs1057519389 | 0.695 | 0.400 | 10 | 129957324 | missense variant | C/A;G;T | snv | 46 | |||
rs61755320 | 0.716 | 0.520 | 16 | 89546737 | missense variant | C/T | snv | 2.9E-03 | 3.5E-03 | 36 | |
rs201893408 | 0.695 | 0.480 | 8 | 93795970 | missense variant | T/A;C | snv | 8.0E-06; 1.5E-04 | 28 | ||
rs1554389088 | 0.807 | 0.160 | 7 | 44243526 | missense variant | G/A | snv | 27 | |||
rs28929474 | 0.708 | 0.320 | 14 | 94378610 | missense variant | C/G;T | snv | 2.8E-05; 1.1E-02 | 23 | ||
rs28936415 | 0.752 | 0.320 | 16 | 8811153 | missense variant | G/A | snv | 4.1E-03 | 3.7E-03 | 22 | |
rs138659167 | 0.807 | 0.320 | 11 | 71435840 | splice acceptor variant | C/A;G | snv | 5.6E-05; 3.9E-03 | 20 | ||
rs606231435 | 0.827 | 0.240 | 19 | 41970539 | missense variant | C/T | snv | 17 | |||
rs61750240 | 0.752 | 0.240 | X | 154031020 | stop gained | G/A;C | snv | 5.5E-06 | 17 | ||
rs387906702 | 0.807 | 0.200 | X | 53403635 | missense variant | A/G | snv | 16 | |||
rs421016 | 0.683 | 0.440 | 1 | 155235252 | missense variant | A/C;G | snv | 8.0E-06; 1.3E-03 | 15 | ||
rs1554504663 | 0.851 | 0.080 | 8 | 23007627 | missense variant | G/A | snv | 11 | |||
rs1135402761 | 0.827 | 0.320 | 12 | 79448958 | missense variant | T/C | snv | 11 | |||
rs775104326 | 0.776 | 0.160 | 3 | 41224995 | stop gained | C/A;T | snv | 4.0E-06 | 10 | ||
rs768823392 | 0.827 | 0.120 | 16 | 89546657 | coding sequence variant | GGCGGGAGA/- | delins | 2.6E-04 | 4.2E-04 | 10 | |
rs864309483 | 0.851 | 0.080 | 3 | 123352464 | missense variant | G/A | snv | 9 | |||
rs1554402092 | 1.000 | 7 | 44254555 | missense variant | C/T | snv | 8 | ||||
rs80338933 | 0.807 | 0.080 | 5 | 149026872 | stop gained | G/A | snv | 7.5E-04; 4.0E-06 | 6.6E-04 | 8 | |
rs1555119899 | 0.925 | 0.240 | 11 | 108326149 | missense variant | G/C | snv | 7 | |||
rs1554121872 | 0.882 | 0.040 | 5 | 150250270 | missense variant | T/G | snv | 7 | |||
rs776095655 | 0.827 | 0.160 | 1 | 42927684 | missense variant | C/A;T | snv | 4.0E-06 | 7 | ||
rs80359541 | 0.882 | 0.200 | 13 | 32340183 | frameshift variant | C/- | del | 8.0E-06 | 6 | ||
rs104894094 | 0.763 | 0.200 | 9 | 21971058 | missense variant | C/A;G;T | snv | 8.5E-06; 4.3E-06 | 6 | ||
rs104893915 | 0.776 | 0.200 | 5 | 149980428 | missense variant | C/T | snv | 9.8E-04 | 1.0E-03 | 6 |