Source: CLINVAR ×
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs121913281 | 0.623 | 0.520 | 3 | 179234296 | missense variant | C/T | snv | 37 | |||
rs148924904 | 0.724 | 0.360 | 17 | 7675124 | missense variant | T/C | snv | 7.0E-06 | 17 | ||
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 | |||
rs193920774 | 0.695 | 0.440 | 17 | 7673823 | missense variant | C/A;T | snv | 21 | |||
rs28934575 | 0.641 | 0.400 | 17 | 7674230 | missense variant | C/A;G;T | snv | 25 | |||
rs28934874 | 0.695 | 0.480 | 17 | 7675161 | missense variant | G/A;C;T | snv | 21 | |||
rs375874539 | 0.732 | 0.320 | 17 | 7674237 | missense variant | G/A;C | snv | 11 | |||
rs377767347 | 0.742 | 0.520 | 18 | 51065549 | missense variant | G/A;C;T | snv | 13 | |||
rs397516436 | 0.641 | 0.440 | 17 | 7674894 | stop gained | G/A;C | snv | 26 | |||
rs587780073 | 0.708 | 0.400 | 17 | 7674262 | missense variant | T/C;G | snv | 17 | |||
rs587782329 | 0.677 | 0.280 | 17 | 7674217 | missense variant | C/A;G;T | snv | 16 | |||
rs730882025 | 0.724 | 0.360 | 17 | 7674885 | missense variant | C/A;G;T | snv | 14 | |||
rs760043106 | 0.645 | 0.440 | 17 | 7674947 | missense variant | A/C;G;T | snv | 18 | |||
rs765848205 | 0.763 | 0.240 | 17 | 7674253 | missense variant | A/C;G;T | snv | 12 | |||
rs786201057 | 0.677 | 0.400 | 17 | 7675995 | missense variant | G/A;C;T | snv | 24 | |||
rs786201059 | 0.701 | 0.360 | 17 | 7673764 | stop gained | C/A;G;T | snv | 19 | |||
rs786201838 | 0.683 | 0.440 | 17 | 7674953 | missense variant | T/A;C;G | snv | 23 | |||
rs786203436 | 0.701 | 0.280 | 17 | 7675125 | missense variant | A/C;G;T | snv | 15 | |||
rs80338963 | 0.776 | 0.280 | 18 | 51065548 | missense variant | C/A;G;T | snv | 11 | |||
rs863224451 | 0.701 | 0.440 | 17 | 7673796 | missense variant | C/A;G;T | snv | 19 | |||
rs864622237 | 0.716 | 0.320 | 17 | 7674263 | missense variant | A/C;G;T | snv | 17 | |||
rs866775781 | 0.716 | 0.440 | 17 | 7675216 | splice acceptor variant | C/A;G | snv | 17 | |||
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 |