Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs28934573 | 0.667 | 0.480 | 17 | 7674241 | missense variant | G/A;C;T | snv | 4.0E-06 | 28 | ||
rs1760944 | 0.672 | 0.480 | 14 | 20454990 | non coding transcript exon variant | T/C;G | snv | 26 | |||
rs2298881 | 0.653 | 0.400 | 19 | 45423658 | intron variant | C/A;T | snv | 25 | |||
rs764146326 | 0.662 | 0.480 | 17 | 7673779 | missense variant | C/A;G;T | snv | 4.0E-06 | 25 | ||
rs747342068 | 0.695 | 0.440 | 17 | 7675218 | missense variant | T/C;G | snv | 4.0E-06 | 21 | ||
rs12190287 | 0.708 | 0.280 | 6 | 133893387 | 3 prime UTR variant | C/G;T | snv | 19 | |||
rs1273593548 | 0.716 | 0.160 | 7 | 106867593 | missense variant | T/G | snv | 8.4E-06 | 19 | ||
rs199476133 | 0.742 | 0.320 | MT | 8993 | missense variant | T/C;G | snv | 18 | |||
rs55832599 | 0.716 | 0.360 | 17 | 7673821 | missense variant | G/A | snv | 18 | |||
rs747126003 | 0.689 | 0.400 | 7 | 22728790 | missense variant | A/G;T | snv | 4.0E-06 | 18 | ||
rs1057519902 | 0.742 | 0.160 | 1 | 226064451 | missense variant | G/C | snv | 16 | |||
rs1800372 | 0.752 | 0.240 | 17 | 7674892 | synonymous variant | T/A;C | snv | 1.3E-02 | 15 | ||
rs7958904 | 0.724 | 0.200 | 12 | 53963768 | non coding transcript exon variant | C/A;G | snv | 15 | |||
rs1553260624 | 0.763 | 0.080 | 1 | 226064454 | missense variant | G/A | snv | 14 | |||
rs2070699 | 0.752 | 0.080 | 6 | 12292539 | intron variant | G/C;T | snv | 0.45 | 14 | ||
rs1057519736 | 0.752 | 0.160 | 15 | 90088605 | missense variant | C/G | snv | 13 | |||
rs1131691003 | 0.752 | 0.360 | 17 | 7676381 | splice donor variant | C/A;G | snv | 12 | |||
rs1131691042 | 0.752 | 0.360 | 17 | 7675052 | splice donor variant | C/T | snv | 12 | |||
rs7025417 | 0.752 | 0.280 | 9 | 6240084 | intron variant | T/C;G | snv | 11 | |||
rs235768 | 0.807 | 0.160 | 20 | 6778468 | missense variant | A/G;T | snv | 0.67 | 8 | ||
rs553668 | 0.807 | 0.160 | 10 | 111079821 | 3 prime UTR variant | A/G;T | snv | 8 | |||
rs56307747 | 0.776 | 0.160 | 7 | 74059952 | missense variant | G/A;C | snv | 4.0E-06 | 8 | ||
rs121908698 | 0.851 | 0.200 | 22 | 28725242 | splice donor variant | C/A;T | snv | 4.0E-06; 1.3E-04 | 7 | ||
rs1052667 | 0.882 | 0.040 | 19 | 47004177 | 3 prime UTR variant | C/G;T | snv | 6 | |||
rs122445099 | 0.827 | 0.400 | X | 77520832 | stop gained | G/A | snv | 6 |