Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1006737 | 0.695 | 0.120 | 12 | 2236129 | intron variant | G/A | snv | 0.36 | 7 | ||
rs1009298200 | 0.742 | 0.400 | 16 | 5079077 | missense variant | C/G;T | snv | 7.0E-06 | 34 | ||
rs1010184002 | 0.689 | 0.400 | 6 | 42978878 | stop gained | C/T | snv | 7.0E-06 | 60 | ||
rs1024611 | 0.568 | 0.800 | 17 | 34252769 | upstream gene variant | A/G | snv | 0.28 | 4 | ||
rs104893851 | 1.000 | 0.080 | 4 | 145639572 | stop gained | C/T | snv | 1.6E-04 | 1.7E-04 | 6 | |
rs104894483 | 0.925 | 0.120 | 15 | 68214373 | stop gained | C/A;G;T | snv | 6.8E-05; 2.6E-03; 2.0E-05; 4.0E-06 | 3 | ||
rs104894718 | 0.790 | 0.160 | 19 | 35033654 | stop gained | C/A;G;T | snv | 4.0E-06 | 6 | ||
rs1057516032 | 1.000 | 19 | 41970211 | protein altering variant | AGTCT/GA | delins | 4 | ||||
rs1057516264 | 0.776 | 0.280 | 11 | 6614968 | frameshift variant | C/-;CC | delins | 13 | |||
rs1057517891 | 15 | 89333346 | stop gained | G/A | snv | 1 | |||||
rs1057518770 | 1.000 | 15 | 25354536 | missense variant | C/T | snv | 6 | ||||
rs1057518821 | 1.000 | 1 | 42930671 | frameshift variant | -/C | delins | 5 | ||||
rs1057518843 | 0.790 | 0.240 | 14 | 87988523 | missense variant | C/T | snv | 19 | |||
rs1057518887 | 0.925 | 0.160 | 4 | 25156851 | splice region variant | C/T | snv | 7 | |||
rs1057518921 | 1.000 | X | 71132465 | missense variant | G/A | snv | 7 | ||||
rs1057518932 | 1.000 | 17 | 44855003 | missense variant | T/A | snv | 2 | ||||
rs1057518961 | 0.925 | 0.040 | 14 | 102012450 | missense variant | C/T | snv | 5 | |||
rs1057518963 | 0.851 | 0.200 | X | 68210239 | missense variant | A/G | snv | 6 | |||
rs1057519436 | 0.882 | 0.200 | 3 | 47846550 | missense variant | G/A | snv | 7 | |||
rs1057519438 | 0.925 | 0.080 | 9 | 87969919 | stop gained | C/G;T | snv | 4.9E-06 | 4 | ||
rs1057519439 | 1.000 | 0.120 | 2 | 195787135 | missense variant | A/G | snv | 5 | |||
rs1057519440 | 1.000 | 0.040 | X | 51744647 | missense variant | G/A | snv | 3 | |||
rs1057519443 | 0.882 | 0.200 | 2 | 201675255 | missense variant | A/G | snv | 7 | |||
rs1057519444 | 0.925 | 0.120 | 22 | 32518208 | missense variant | GG/AA | mnv | 5 | |||
rs1057519463 | 0.882 | 0.240 | 15 | 72349160 | frameshift variant | GAACTCAT/- | delins | 6 |