Source: CLINVAR ×
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs34968276 | 0.776 | 0.240 | 9 | 21971110 | stop gained | G/A;C;T | snv | 9 | |||
rs397516436 | 0.641 | 0.440 | 17 | 7674894 | stop gained | G/A;C | snv | 26 | |||
rs786201059 | 0.701 | 0.360 | 17 | 7673764 | stop gained | C/A;G;T | snv | 19 | |||
rs104894104 | 0.790 | 0.160 | 9 | 21971019 | missense variant | G/A;T | snv | 4 | |||
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 | |||
rs104894229 | 0.564 | 0.600 | 11 | 534289 | missense variant | C/A;G;T | snv | 52 | |||
rs104894230 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 36 | |||
rs1057519816 | 0.763 | 0.200 | 17 | 39711955 | missense variant | C/A;T | snv | 10 | |||
rs1057519874 | 0.807 | 0.120 | 7 | 6387261 | missense variant | C/A;T | snv | 4 | |||
rs1057519881 | 0.776 | 0.240 | 9 | 21971111 | missense variant | T/C | snv | 8 | |||
rs1057519882 | 0.807 | 0.200 | 9 | 21974678 | missense variant | C/A | snv | 7 | |||
rs1057519948 | 0.851 | 0.120 | 7 | 6387262 | missense variant | C/T | snv | 4 | |||
rs1057519985 | 0.724 | 0.360 | 17 | 7673763 | missense variant | T/A;C;G | snv | 15 | |||
rs1057519986 | 0.776 | 0.240 | 17 | 7673811 | missense variant | A/C;G | snv | 10 | |||
rs1057519987 | 0.776 | 0.280 | 17 | 7673810 | missense variant | A/C | snv | 9 | |||
rs1057519988 | 0.776 | 0.240 | 17 | 7673812 | missense variant | A/C;G;T | snv | 10 | |||
rs1057519991 | 0.662 | 0.440 | 17 | 7675076 | missense variant | T/A;C;G | snv | 4.0E-06 | 19 | ||
rs1057520002 | 0.695 | 0.360 | 17 | 7674242 | missense variant | A/C;G | snv | 20 | |||
rs1057520003 | 0.695 | 0.320 | 17 | 7675996 | missense variant | T/G | snv | 20 | |||
rs1057520004 | 0.752 | 0.240 | 17 | 7674884 | missense variant | A/C;T | snv | 11 | |||
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 | ||
rs121912657 | 0.683 | 0.480 | 17 | 7673806 | missense variant | C/A;G;T | snv | 4.0E-06 | 15 | ||
rs121912660 | 0.683 | 0.240 | 17 | 7673781 | missense variant | C/A;G;T | snv | 18 |