Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs28935468 | 0.732 | 0.240 | X | 154030912 | missense variant | G/A | snv | 17 | |||
rs797044849 | 0.807 | 0.160 | 12 | 13567164 | missense variant | C/A;G;T | snv | 4.0E-06 | 17 | ||
rs1555741826 | 0.776 | 0.280 | 19 | 49601646 | frameshift variant | TGCC/- | delins | 16 | |||
rs1555640521 | 0.790 | 0.320 | 18 | 6942110 | frameshift variant | A/- | delins | 15 | |||
rs1569525894 | 0.790 | 0.280 | X | 136040055 | frameshift variant | TCTTCCTTAACCACCGC/- | delins | 14 | |||
rs4343 | 0.742 | 0.480 | 17 | 63488670 | synonymous variant | G/A | snv | 0.53 | 14 | ||
rs112795301 | 0.776 | 0.160 | 3 | 70972634 | stop gained | G/A | snv | 13 | |||
rs1555740650 | 0.807 | 0.240 | 19 | 49596253 | stop gained | G/T | snv | 13 | |||
rs1562134961 | 0.776 | 0.320 | 6 | 78969879 | frameshift variant | A/- | delins | 13 | |||
rs1568019012 | 0.790 | 0.360 | 18 | 6985616 | stop gained | G/A | snv | 13 | |||
rs886041116 | 0.776 | 0.240 | 20 | 50892526 | stop gained | G/A | snv | 13 | |||
rs2710102 | 0.790 | 0.120 | 7 | 147877298 | intron variant | A/G;T | snv | 12 | |||
rs1060499733 | 0.851 | 0.120 | 3 | 47846757 | missense variant | A/G | snv | 11 | |||
rs1064793345 | 0.752 | 0.240 | 10 | 87961039 | missense variant | T/C | snv | 11 | |||
rs121917893 | 0.807 | 0.160 | X | 71167508 | missense variant | C/T | snv | 10 | |||
rs1567941252 | 0.807 | 0.240 | 17 | 38739601 | missense variant | G/A | snv | 10 | |||
rs876660634 | 0.807 | 0.200 | 10 | 87925551 | missense variant | A/C;G | snv | 10 | |||
rs1169089134 | 0.790 | 0.320 | 11 | 49206785 | missense variant | C/G;T | snv | 9 | |||
rs1562171209 | 0.851 | 0.160 | 6 | 79003821 | missense variant | T/C | snv | 9 | |||
rs2535629 | 0.827 | 0.040 | 3 | 52799203 | intron variant | G/A;C | snv | 9 | |||
rs757511770 | 0.807 | 0.280 | 1 | 240092656 | missense variant | A/C;G;T | snv | 8.0E-06; 4.0E-06 | 9 | ||
rs779867 | 0.776 | 0.120 | 3 | 7442784 | intron variant | T/C;G | snv | 9 | |||
rs121909323 | 0.790 | 0.160 | 19 | 13277122 | stop gained | G/A | snv | 8 | |||
rs73598374 | 0.790 | 0.280 | 20 | 44651586 | missense variant | C/A;G;T | snv | 7.1E-06; 6.2E-02 | 8 | ||
rs1555453538 | 0.807 | 0.280 | 15 | 89326678 | frameshift variant | A/- | delins | 7 |