Source: CLINVAR ×
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1057519932 | 0.683 | 0.320 | 3 | 179234298 | missense variant | T/G | snv | 22 | |||
rs1057519999 | 0.763 | 0.160 | 17 | 7674247 | missense variant | T/C;G | snv | 12 | |||
rs121912666 | 0.645 | 0.360 | 17 | 7674872 | missense variant | T/C;G | snv | 8.0E-06 | 24 | ||
rs876660807 | 0.763 | 0.160 | 17 | 7674248 | missense variant | T/C | snv | 12 | |||
rs121913255 | 0.667 | 0.400 | 1 | 114713907 | missense variant | T/A;G | snv | 19 | |||
rs786203071 | 0.776 | 0.240 | 17 | 7675181 | missense variant | T/A;G | snv | 8 | |||
rs1057519991 | 0.662 | 0.440 | 17 | 7675076 | missense variant | T/A;C;G | snv | 4.0E-06 | 19 | ||
rs1057520007 | 0.701 | 0.440 | 17 | 7674917 | missense variant | T/A;C;G | snv | 17 | |||
rs11554290 | 0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv | 25 | |||
rs587781525 | 0.689 | 0.480 | 17 | 7673778 | missense variant | T/A;C;G | snv | 20 | |||
rs786201838 | 0.683 | 0.440 | 17 | 7674953 | missense variant | T/A;C;G | snv | 23 | |||
rs121913275 | 0.672 | 0.320 | 3 | 179218305 | missense variant | G/A;C;T | snv | 4.0E-06 | 25 | ||
rs121913343 | 0.611 | 0.520 | 17 | 7673803 | missense variant | G/A;C;T | snv | 1.2E-05 | 29 | ||
rs149680468 | 0.742 | 0.320 | 4 | 152326137 | missense variant | G/A;C;T | snv | 12 | |||
rs17849781 | 0.701 | 0.480 | 17 | 7673788 | missense variant | G/A;C;T | snv | 14 | |||
rs28934573 | 0.667 | 0.480 | 17 | 7674241 | missense variant | G/A;C;T | snv | 4.0E-06 | 24 | ||
rs28934874 | 0.695 | 0.480 | 17 | 7675161 | missense variant | G/A;C;T | snv | 21 | |||
rs587780070 | 0.683 | 0.320 | 17 | 7675077 | missense variant | G/A;C;T | snv | 4.0E-06 | 23 | ||
rs876658468 | 0.689 | 0.440 | 17 | 7674954 | missense variant | G/A;C;T | snv | 22 | |||
rs876659802 | 0.732 | 0.440 | 17 | 7673787 | missense variant | G/A;C;T | snv | 15 | |||
rs104886003 | 0.562 | 0.440 | 3 | 179218303 | missense variant | G/A;C | snv | 4.0E-06 | 34 | ||
rs121912651 | 0.605 | 0.680 | 17 | 7674221 | missense variant | G/A;C | snv | 4.0E-06 | 37 | ||
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 | ||
rs397516436 | 0.641 | 0.440 | 17 | 7674894 | stop gained | G/A;C | snv | 26 |