Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs17292650 | 0.882 | 0.120 | 1 | 43338136 | missense variant | G/T | snv | 3.5E-03 | 1.4E-02 | 3 | |
rs121913615 | 0.683 | 0.240 | 1 | 43349338 | missense variant | G/C;T | snv | 8.0E-06 | 25 | ||
rs77375493 | 0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 | 187 | ||
rs149698066 | 1.000 | 0.040 | 19 | 40458157 | stop gained | G/A;T | snv | 3.1E-03 | 1 | ||
rs730882079 | 1.000 | 0.040 | 19 | 11105220 | missense variant | C/T | snv | 8.0E-06 | 2 | ||
rs754858730 | 1.000 | 0.040 | 8 | 60853189 | missense variant | C/T | snv | 4.0E-06 | 2 | ||
rs782627671 | 1.000 | 0.040 | 19 | 41869159 | missense variant | C/T | snv | 4.0E-06 | 2 | ||
rs750046020 | 0.827 | 0.080 | 1 | 43338646 | missense variant | C/G;T | snv | 8.0E-06; 8.0E-05 | 6 | ||
rs1057520016 | 0.851 | 0.080 | 9 | 5089726 | missense variant | C/A;T | snv | 5 | |||
rs1317118140 | 1.000 | 0.040 | 19 | 53804069 | missense variant | A/G | snv | 2 | |||
rs312262690 | 0.752 | 0.320 | 4 | 79984831 | frameshift variant | -/G;GG | delins | 1.7E-05 | 28 | ||
rs779957223 | 1.000 | 0.040 | 19 | 53804069 | frameshift variant | -/AG | ins | 1.2E-05 | 1.4E-05 | 2 |