Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1555640521 | 0.790 | 0.320 | 18 | 6942110 | frameshift variant | A/- | delins | 15 | |||
rs28935468 | 0.732 | 0.240 | X | 154030912 | missense variant | G/A | snv | 14 | |||
rs1569525894 | 0.790 | 0.280 | X | 136040055 | frameshift variant | TCTTCCTTAACCACCGC/- | delins | 14 | |||
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 | |||
rs1555740650 | 0.807 | 0.240 | 19 | 49596253 | stop gained | G/T | snv | 13 | |||
rs886041116 | 0.776 | 0.240 | 20 | 50892526 | stop gained | G/A | snv | 11 | |||
rs1060499733 | 0.851 | 0.120 | 3 | 47846757 | missense variant | A/G | snv | 11 | |||
rs112795301 | 0.776 | 0.160 | 3 | 70972634 | stop gained | G/A | snv | 11 | |||
rs1567941252 | 0.807 | 0.240 | 17 | 38739601 | missense variant | G/A | snv | 10 | |||
rs1064793345 | 0.752 | 0.240 | 10 | 87961039 | missense variant | T/C | snv | 10 | |||
rs876660634 | 0.807 | 0.200 | 10 | 87925551 | missense variant | A/C;G | snv | 10 | |||
rs757511770 | 0.807 | 0.280 | 1 | 240092656 | missense variant | A/C;G;T | snv | 8.0E-06; 4.0E-06 | 9 | ||
rs1800562 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 9 | |
rs1562171209 | 0.851 | 0.160 | 6 | 79003821 | missense variant | T/C | snv | 9 | |||
rs113994098 | 0.742 | 0.320 | 15 | 89321792 | missense variant | C/T | snv | 1.5E-04 | 2.7E-04 | 9 | |
rs121909323 | 0.790 | 0.160 | 19 | 13277122 | stop gained | G/A | snv | 8 | |||
rs558269137 | 0.851 | 0.160 | 1 | 152312601 | frameshift variant | ACTG/- | delins | 1.3E-02 | 8 | ||
rs34002892 | 0.851 | 0.200 | 12 | 101753470 | frameshift variant | GA/- | delins | 5.1E-04 | 3.5E-04 | 8 | |
rs1799945 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 8 | |
rs1555453538 | 0.807 | 0.280 | 15 | 89326678 | frameshift variant | A/- | delins | 7 | |||
rs81002885 | 0.827 | 0.280 | 13 | 32316529 | splice donor variant | T/A;C;G | snv | 4.0E-06 | 6 | ||
rs1135402760 | 0.851 | 0.160 | 11 | 1451405 | frameshift variant | AG/- | delins | 6 | |||
rs1566446604 | 0.882 | 0.080 | 14 | 21431511 | frameshift variant | GAGAGCTTGGCAGTCCA/- | delins | 6 | |||
rs796052571 | 0.851 | 0.040 | 12 | 13608755 | missense variant | C/T | snv | 6 |