Source: CLINVAR ×
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs121913255 | 0.667 | 0.400 | 1 | 114713907 | missense variant | T/A;G | snv | 19 | |||
rs11554290 | 0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv | 25 | |||
rs121913338 | 0.677 | 0.400 | 7 | 140753354 | missense variant | T/A;C;G | snv | 12 | |||
rs397516896 | 0.763 | 0.360 | 7 | 140753355 | missense variant | C/G;T | snv | 11 | |||
rs1057519896 | 0.742 | 0.320 | 4 | 152326136 | missense variant | C/A;T | snv | 12 | |||
rs149680468 | 0.742 | 0.320 | 4 | 152326137 | missense variant | G/A;C;T | snv | 12 | |||
rs1057519961 | 0.851 | 0.240 | 2 | 197402759 | missense variant | C/T | snv | 4 | |||
rs775623976 | 0.851 | 0.240 | 2 | 197402760 | missense variant | G/A;C | snv | 4.0E-06 | 4 | ||
rs17851045 | 0.672 | 0.400 | 12 | 25227341 | missense variant | T/A;G | snv | 4.0E-06 | 15 | ||
rs121913233 | 0.627 | 0.520 | 11 | 533874 | missense variant | T/A;C;G | snv | 20 | |||
rs28933406 | 0.667 | 0.480 | 11 | 533875 | missense variant | G/C;T | snv | 17 | |||
rs104894226 | 0.658 | 0.560 | 11 | 534285 | missense variant | C/A;G;T | snv | 23 | |||
rs104894228 | 0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv | 30 | |||
rs587781525 | 0.689 | 0.480 | 17 | 7673778 | missense variant | T/A;C;G | snv | 20 | |||
rs764146326 | 0.662 | 0.480 | 17 | 7673779 | missense variant | C/A;G;T | snv | 4.0E-06 | 20 | ||
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 | |||
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 | ||
rs193920774 | 0.695 | 0.440 | 17 | 7673823 | missense variant | C/A;T | snv | 21 | |||
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 | ||
rs375874539 | 0.732 | 0.320 | 17 | 7674237 | missense variant | G/A;C | snv | 11 | |||
rs121912655 | 0.724 | 0.400 | 17 | 7674238 | missense variant | C/A;G;T | snv | 15 | |||
rs730882005 | 0.701 | 0.400 | 17 | 7674250 | missense variant | C/A;G;T | snv | 8.0E-06 | 20 |