Source: CLINVAR
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs121913344 | 0.925 | 0.200 | 17 | 7673704 | stop gained | G/A;T | snv | 5 | |||
rs1057519985 | 0.724 | 0.360 | 17 | 7673763 | missense variant | T/A;C;G | snv | 15 | |||
rs786201059 | 0.701 | 0.360 | 17 | 7673764 | stop gained | C/A;G;T | snv | 19 | |||
rs730882008 | 0.683 | 0.440 | 17 | 7673775 | missense variant | C/A;G;T | snv | 4.0E-06 | 22 | ||
rs28934574 | 0.658 | 0.440 | 17 | 7673776 | missense variant | G/A;C | snv | 4.0E-06 | 27 | ||
rs876659802 | 0.732 | 0.440 | 17 | 7673787 | missense variant | G/A;C;T | snv | 15 | |||
rs17849781 | 0.701 | 0.480 | 17 | 7673788 | missense variant | G/A;C;T | snv | 14 | |||
rs863224451 | 0.701 | 0.440 | 17 | 7673796 | missense variant | C/A;G;T | snv | 19 | |||
rs1057519983 | 0.724 | 0.360 | 17 | 7673797 | missense variant | A/G | snv | 16 | |||
rs1057520006 | 0.752 | 0.240 | 17 | 7673799 | missense variant | A/C;G;T | snv | 12 | |||
rs1057520005 | 0.742 | 0.360 | 17 | 7673800 | missense variant | C/A;G | snv | 11 | |||
rs28934576 | 0.554 | 0.600 | 17 | 7673802 | missense variant | C/A;G;T | snv | 4.0E-06; 1.6E-05 | 39 | ||
rs121913343 | 0.611 | 0.520 | 17 | 7673803 | missense variant | G/A;C;T | snv | 1.2E-05 | 29 | ||
rs876660333 | 0.742 | 0.360 | 17 | 7673805 | missense variant | A/C;G;T | snv | 13 | |||
rs121912657 | 0.683 | 0.480 | 17 | 7673806 | missense variant | C/A;G;T | snv | 4.0E-06 | 15 | ||
rs193920774 | 0.695 | 0.440 | 17 | 7673823 | missense variant | C/A;T | snv | 21 | |||
rs1057519995 | 0.807 | 0.240 | 17 | 7674200 | missense variant | T/A | snv | 8 | |||
rs11540652 | 0.592 | 0.640 | 17 | 7674220 | missense variant | C/A;G;T | snv | 1.2E-05 | 42 | ||
rs121912651 | 0.605 | 0.680 | 17 | 7674221 | missense variant | G/A;C | snv | 4.0E-06 | 37 | ||
rs121912656 | 0.662 | 0.560 | 17 | 7674229 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06 | 20 | ||
rs28934575 | 0.641 | 0.400 | 17 | 7674230 | missense variant | C/A;G;T | snv | 25 | |||
rs985033810 | 0.724 | 0.280 | 17 | 7674232 | missense variant | C/A;G;T | snv | 16 | |||
rs1057519989 | 0.732 | 0.240 | 17 | 7674233 | missense variant | C/A;G;T | snv | 15 | |||
rs28934573 | 0.667 | 0.480 | 17 | 7674241 | missense variant | G/A;C;T | snv | 4.0E-06 | 24 | ||
rs1057520002 | 0.695 | 0.360 | 17 | 7674242 | missense variant | A/C;G | snv | 20 |