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 | |||
rs1057520003 | 0.695 | 0.320 | 17 | 7675996 | missense variant | T/G | snv | 20 | |||
rs1057519879 | 0.763 | 0.280 | 15 | 44711548 | start lost | T/C;G | snv | 10 | |||
rs1057519941 | 0.776 | 0.240 | 3 | 179203761 | missense variant | T/C;G | snv | 9 | |||
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 | ||
rs587780073 | 0.708 | 0.400 | 17 | 7674262 | missense variant | T/C;G | snv | 17 | |||
rs730882026 | 0.742 | 0.440 | 17 | 7674256 | missense variant | T/C;G | snv | 12 | |||
rs747342068 | 0.695 | 0.440 | 17 | 7675218 | missense variant | T/C;G | snv | 4.0E-06 | 17 | ||
rs1057519937 | 0.776 | 0.200 | 3 | 179234285 | missense variant | T/C | snv | 11 | |||
rs148924904 | 0.724 | 0.360 | 17 | 7675124 | missense variant | T/C | snv | 7.0E-06 | 17 | ||
rs876660807 | 0.763 | 0.160 | 17 | 7674248 | missense variant | T/C | snv | 12 | |||
rs121913284 | 0.776 | 0.160 | 3 | 179203765 | missense variant | T/A;G | snv | 10 | |||
rs1057519985 | 0.724 | 0.360 | 17 | 7673763 | missense variant | T/A;C;G | snv | 15 | |||
rs1057519991 | 0.662 | 0.440 | 17 | 7675076 | missense variant | T/A;C;G | snv | 4.0E-06 | 19 | ||
rs1057519996 | 0.701 | 0.360 | 17 | 7675217 | splice acceptor variant | T/A;C;G | snv | 16 | |||
rs1057520007 | 0.701 | 0.440 | 17 | 7674917 | missense variant | T/A;C;G | snv | 17 | |||
rs121913233 | 0.627 | 0.520 | 11 | 533874 | missense variant | T/A;C;G | snv | 20 | |||
rs121913338 | 0.677 | 0.400 | 7 | 140753354 | missense variant | T/A;C;G | snv | 12 | |||
rs786201838 | 0.683 | 0.440 | 17 | 7674953 | missense variant | T/A;C;G | snv | 23 | |||
rs942158624 | 0.724 | 0.320 | 17 | 7674948 | missense variant | T/A | snv | 16 | |||
rs1057519940 | 0.752 | 0.200 | 3 | 179218308 | missense variant | G/T | snv | 13 | |||
rs1057519934 | 0.790 | 0.240 | 3 | 179199158 | missense variant | G/C | snv | 11 | |||
rs1057519977 | 0.763 | 0.360 | 17 | 7675189 | missense variant | G/C | snv | 13 | |||
rs747241612 | 0.752 | 0.240 | 4 | 152326215 | missense variant | G/C | snv | 4.0E-06 | 12 |