Source: CLINVAR
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs753660142 | 0.708 | 0.280 | 17 | 7673782 | missense variant | T/C;G | snv | 1.6E-05 | 19 | ||
rs786201059 | 0.701 | 0.360 | 17 | 7673764 | stop gained | C/A;G;T | snv | 19 | |||
rs863224451 | 0.701 | 0.440 | 17 | 7673796 | missense variant | C/A;G;T | snv | 19 | |||
rs121912660 | 0.683 | 0.240 | 17 | 7673781 | missense variant | C/A;G;T | snv | 18 | |||
rs587780073 | 0.708 | 0.400 | 17 | 7674262 | missense variant | T/C;G | snv | 17 | |||
rs747342068 | 0.695 | 0.440 | 17 | 7675218 | missense variant | T/C;G | snv | 4.0E-06 | 17 | ||
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 | |||
rs866775781 | 0.716 | 0.440 | 17 | 7675216 | splice acceptor variant | C/A;G | snv | 17 | |||
rs1057519983 | 0.724 | 0.360 | 17 | 7673797 | missense variant | A/G | snv | 16 | |||
rs1057519996 | 0.701 | 0.360 | 17 | 7675217 | splice acceptor variant | T/A;C;G | snv | 16 | |||
rs967461896 | 0.724 | 0.240 | 17 | 7675086 | missense variant | A/C;G;T | snv | 16 | |||
rs1057519985 | 0.724 | 0.360 | 17 | 7673763 | missense variant | T/A;C;G | snv | 15 | |||
rs121912655 | 0.724 | 0.400 | 17 | 7674238 | missense variant | C/A;G;T | snv | 15 | |||
rs121912657 | 0.683 | 0.480 | 17 | 7673806 | missense variant | C/A;G;T | snv | 4.0E-06 | 15 | ||
rs587781991 | 0.724 | 0.240 | 17 | 7675208 | missense variant | C/A;T | snv | 14 | |||
rs1057519975 | 0.649 | 0.480 | 17 | 7675209 | missense variant | A/C;G;T | snv | 13 | |||
rs1057519992 | 0.742 | 0.400 | 17 | 7674890 | missense variant | T/A;C;G | snv | 13 | |||
rs876660333 | 0.742 | 0.360 | 17 | 7673805 | missense variant | A/C;G;T | snv | 13 | |||
rs375874539 | 0.732 | 0.320 | 17 | 7674237 | missense variant | G/A;C | snv | 11 | |||
rs587780071 | 0.732 | 0.240 | 17 | 7674951 | missense variant | G/A | snv | 11 | |||
rs786201419 | 0.790 | 0.160 | 17 | 7675180 | missense variant | C/A;T | snv | 8 | |||
rs786203071 | 0.776 | 0.240 | 17 | 7675181 | missense variant | T/A;G | snv | 8 | |||
rs1131691014 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 1 |