Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1190999960 | 0.807 | 0.240 | 11 | 65571690 | missense variant | G/A | snv | 9 | |||
rs145204276 | 0.658 | 0.320 | 1 | 173868254 | splice donor variant | CAAGG/- | delins | 8.8E-02 | 31 | ||
rs3747093 | 0.732 | 0.200 | 22 | 21630090 | upstream gene variant | G/A | snv | 0.32 | 16 | ||
rs5751129 | 0.752 | 0.320 | 22 | 41619761 | intron variant | C/T | snv | 0.69 | 14 | ||
rs1799794 | 0.763 | 0.320 | 14 | 103712930 | splice region variant | T/C | snv | 0.22 | 12 | ||
rs3218536 | 0.620 | 0.440 | 7 | 152648922 | missense variant | C/G;T | snv | 4.0E-06; 6.4E-02 | 37 | ||
rs1799782 | 0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 | 151 | |
rs25487 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 205 | |
rs25489 | 0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 | 78 | ||
rs2228000 | 0.585 | 0.560 | 3 | 14158387 | missense variant | G/A | snv | 0.24 | 0.21 | 53 | |
rs2228001 | 0.570 | 0.480 | 3 | 14145949 | missense variant | G/T | snv | 0.63 | 0.65 | 60 | |
rs767551092 | 0.790 | 0.200 | 3 | 14164838 | missense variant | G/A | snv | 4.0E-06 | 10 | ||
rs2808668 | 0.851 | 0.120 | 9 | 97690153 | intron variant | C/G;T | snv | 7 | |||
rs1346044 | 0.708 | 0.440 | 8 | 31167138 | missense variant | T/C | snv | 0.24 | 0.23 | 23 | |
rs2287499 | 0.925 | 0.080 | 17 | 7688850 | missense variant | C/G;T | snv | 0.20 | 4 | ||
rs1222213359 | 0.574 | 0.720 | 6 | 43770966 | missense variant | G/A | snv | 62 | |||
rs1570360 | 0.641 | 0.680 | 6 | 43770093 | upstream gene variant | A/G | snv | 0.76 | 38 | ||
rs2010963 | 0.542 | 0.840 | 6 | 43770613 | 5 prime UTR variant | C/G | snv | 0.68 | 82 | ||
rs3025039 | 0.576 | 0.720 | 6 | 43784799 | 3 prime UTR variant | C/T | snv | 0.13 | 62 | ||
rs386675647 | 0.790 | 0.240 | 4 | 69098619 | missense variant | AT/TC | mnv | 10 | |||
rs7439366 | 0.752 | 0.320 | 4 | 69098620 | missense variant | T/C | snv | 0.56 | 0.57 | 16 | |
rs3838646 | 0.827 | 0.320 | Y | 18991182 | intron variant | CA/- | del | 8 | |||
rs52812045 | 0.851 | 0.240 | Y | 18992540 | non coding transcript exon variant | G/A | snv | 7 | |||
rs2602141 | 0.790 | 0.120 | 15 | 43432448 | missense variant | T/G | snv | 0.36 | 0.47 | 9 | |
rs560191 | 0.763 | 0.280 | 15 | 43475576 | missense variant | G/C;T | snv | 0.36; 4.0E-06 | 12 |