Source: CLINVAR ×
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs121913275 | 0.672 | 0.320 | 3 | 179218305 | missense variant | G/A;C;T | snv | 4.0E-06 | 25 | ||
rs121913279 | 0.526 | 0.560 | 3 | 179234297 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 | 45 | ||
rs121913281 | 0.623 | 0.520 | 3 | 179234296 | missense variant | C/T | snv | 37 | |||
rs121913284 | 0.776 | 0.160 | 3 | 179203765 | missense variant | T/A;G | snv | 10 | |||
rs121913286 | 0.677 | 0.280 | 3 | 179218306 | missense variant | C/A;G | snv | 20 | |||
rs121913287 | 0.752 | 0.400 | 3 | 179199088 | missense variant | G/A | snv | 11 | |||
rs121913343 | 0.611 | 0.520 | 17 | 7673803 | missense variant | G/A;C;T | snv | 1.2E-05 | 29 | ||
rs121913496 | 0.724 | 0.440 | 11 | 533873 | missense variant | C/A;G;T | snv | 11 | |||
rs138729528 | 0.677 | 0.480 | 17 | 7675089 | missense variant | G/A;C | snv | 1.6E-05 | 25 | ||
rs28934574 | 0.658 | 0.440 | 17 | 7673776 | missense variant | G/A;C | snv | 4.0E-06 | 27 | ||
rs28934575 | 0.641 | 0.400 | 17 | 7674230 | missense variant | C/A;G;T | snv | 25 | |||
rs28934576 | 0.554 | 0.600 | 17 | 7673802 | missense variant | C/A;G;T | snv | 4.0E-06; 1.6E-05 | 39 | ||
rs397517201 | 0.732 | 0.240 | 3 | 179218307 | missense variant | A/C;G;T | snv | 14 | |||
rs530941076 | 0.695 | 0.280 | 17 | 7674873 | missense variant | A/C;G;T | snv | 4.0E-06 | 20 | ||
rs587777790 | 0.732 | 0.280 | 3 | 179199690 | missense variant | G/A | snv | 12 | |||
rs587778720 | 0.667 | 0.360 | 17 | 7674893 | missense variant | C/A;G;T | snv | 4.0E-06 | 25 | ||
rs587780073 | 0.708 | 0.400 | 17 | 7674262 | missense variant | T/C;G | snv | 17 | |||
rs587781288 | 0.732 | 0.440 | 17 | 7675190 | missense variant | C/A;T | snv | 15 | |||
rs587782289 | 0.752 | 0.240 | 17 | 7674257 | missense variant | A/C;G;T | snv | 12 | |||
rs587782329 | 0.677 | 0.280 | 17 | 7674217 | missense variant | C/A;G;T | snv | 16 | |||
rs730882008 | 0.683 | 0.440 | 17 | 7673775 | missense variant | C/A;G;T | snv | 4.0E-06 | 22 | ||
rs730882026 | 0.742 | 0.440 | 17 | 7674256 | missense variant | T/C;G | snv | 12 | |||
rs786201838 | 0.683 | 0.440 | 17 | 7674953 | missense variant | T/A;C;G | snv | 23 | |||
rs786202962 | 0.701 | 0.320 | 17 | 7675085 | missense variant | C/A;T | snv | 4.0E-06 | 17 | ||
rs864622237 | 0.716 | 0.320 | 17 | 7674263 | missense variant | A/C;G;T | snv | 17 |