Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1051730 | 0.641 | 0.600 | 15 | 78601997 | synonymous variant | G/A | snv | 0.27 | 0.26 | 43 | |
rs8034191 | 0.695 | 0.440 | 15 | 78513681 | intron variant | T/C | snv | 0.27 | 24 | ||
rs9904341 | 0.695 | 0.280 | 17 | 78214286 | 5 prime UTR variant | G/A;C;T | snv | 0.38; 4.8E-06 | 20 | ||
rs5352 | 0.827 | 0.200 | 13 | 77901095 | missense variant | C/T | snv | 1.0E-02 | 1.1E-02 | 5 | |
rs1131691003 | 0.752 | 0.360 | 17 | 7676381 | splice donor variant | C/A;G | snv | 12 | |||
rs121912661 | 1.000 | 0.120 | 17 | 7676264 | missense variant | C/A;G | snv | 1 | |||
rs1042522 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 242 | ||
rs1131691014 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 214 | |||
rs878854066 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 213 | |||
rs762846821 | 0.614 | 0.320 | 17 | 7675151 | missense variant | C/A;T | snv | 8.0E-06 | 57 | ||
rs1131691021 | 0.716 | 0.120 | 17 | 7675097 | missense variant | A/C;G | snv | 21 | |||
rs28934578 | 0.605 | 0.600 | 17 | 7675088 | missense variant | C/A;T | snv | 4.0E-06 | 47 | ||
rs1131691042 | 0.752 | 0.360 | 17 | 7675052 | splice donor variant | C/T | snv | 12 | |||
rs121912666 | 0.645 | 0.360 | 17 | 7674872 | missense variant | T/C;G | snv | 8.0E-06 | 34 | ||
rs121912651 | 0.605 | 0.680 | 17 | 7674221 | missense variant | G/A;C | snv | 4.0E-06 | 53 | ||
rs11540652 | 0.592 | 0.640 | 17 | 7674220 | missense variant | C/A;G;T | snv | 1.2E-05 | 57 | ||
rs12947788 | 0.776 | 0.280 | 17 | 7674109 | intron variant | G/A | snv | 0.10 | 8 | ||
rs55832599 | 0.716 | 0.360 | 17 | 7673821 | missense variant | G/A | snv | 18 | |||
rs121913343 | 0.611 | 0.520 | 17 | 7673803 | missense variant | G/A;C;T | snv | 1.2E-05 | 44 | ||
rs28934576 | 0.554 | 0.600 | 17 | 7673802 | missense variant | C/A;G;T | snv | 4.0E-06; 1.6E-05 | 78 | ||
rs1555525012 | 0.882 | 0.200 | 17 | 7673603 | missense variant | G/A | snv | 3 | |||
rs17884306 | 0.925 | 0.120 | 17 | 7668783 | 3 prime UTR variant | C/T | snv | 5.1E-02 | 2 | ||
rs2941471 | 0.851 | 0.240 | 8 | 75558169 | intron variant | G/A | snv | 0.65 | 4 | ||
rs7190458 | 1.000 | 0.120 | 16 | 75229763 | synonymous variant | G/A | snv | 5.1E-02 | 0.11 | 1 | |
rs2229629 | 0.882 | 0.120 | 2 | 74889400 | missense variant | G/A | snv | 6.0E-02 | 0.18 | 4 |