Source: CLINVAR ×
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs104894229 | 0.564 | 0.600 | 11 | 534289 | missense variant | C/A;G;T | snv | 52 | |||
rs11540652 | 0.592 | 0.640 | 17 | 7674220 | missense variant | C/A;G;T | snv | 1.2E-05 | 42 | ||
rs28934576 | 0.554 | 0.600 | 17 | 7673802 | missense variant | C/A;G;T | snv | 4.0E-06; 1.6E-05 | 39 | ||
rs121912651 | 0.605 | 0.680 | 17 | 7674221 | missense variant | G/A;C | snv | 4.0E-06 | 37 | ||
rs104894230 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 36 | |||
rs104894228 | 0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv | 30 | |||
rs121913343 | 0.611 | 0.520 | 17 | 7673803 | missense variant | G/A;C;T | snv | 1.2E-05 | 29 | ||
rs11554290 | 0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv | 25 | |||
rs121912666 | 0.645 | 0.360 | 17 | 7674872 | missense variant | T/C;G | snv | 8.0E-06 | 24 | ||
rs786201057 | 0.677 | 0.400 | 17 | 7675995 | missense variant | G/A;C;T | snv | 24 | |||
rs104894226 | 0.658 | 0.560 | 11 | 534285 | missense variant | C/A;G;T | snv | 23 | |||
rs786201838 | 0.683 | 0.440 | 17 | 7674953 | missense variant | T/A;C;G | snv | 23 | |||
rs876658468 | 0.689 | 0.440 | 17 | 7674954 | missense variant | G/A;C;T | snv | 22 | |||
rs1057520003 | 0.695 | 0.320 | 17 | 7675996 | missense variant | T/G | snv | 20 | |||
rs121913233 | 0.627 | 0.520 | 11 | 533874 | missense variant | T/A;C;G | snv | 20 | |||
rs121913255 | 0.667 | 0.400 | 1 | 114713907 | missense variant | T/A;G | snv | 19 | |||
rs753660142 | 0.708 | 0.280 | 17 | 7673782 | missense variant | T/C;G | snv | 1.6E-05 | 19 | ||
rs786201059 | 0.701 | 0.360 | 17 | 7673764 | stop gained | C/A;G;T | snv | 19 | |||
rs121912660 | 0.683 | 0.240 | 17 | 7673781 | missense variant | C/A;G;T | snv | 18 | |||
rs121913500 | 0.529 | 0.600 | 2 | 208248388 | missense variant | C/A;G;T | snv | 4.0E-06 | 18 | ||
rs28933406 | 0.667 | 0.480 | 11 | 533875 | missense variant | G/C;T | snv | 17 | |||
rs786202962 | 0.701 | 0.320 | 17 | 7675085 | missense variant | C/A;T | snv | 4.0E-06 | 17 | ||
rs121913499 | 0.605 | 0.520 | 2 | 208248389 | missense variant | G/A;C;T | snv | 16 | |||
rs967461896 | 0.724 | 0.240 | 17 | 7675086 | missense variant | A/C;G;T | snv | 16 | |||
rs1057519985 | 0.724 | 0.360 | 17 | 7673763 | missense variant | T/A;C;G | snv | 15 |