Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs387907208 | 0.851 | 0.200 | 12 | 21842327 | missense variant | G/A;C | snv | 5 | |||
rs876657380 | 0.851 | 0.360 | 6 | 157181155 | frameshift variant | AA/- | delins | 11 | |||
rs1057518918 | 0.882 | 0.160 | 6 | 157184329 | frameshift variant | C/- | delins | 6 | |||
rs1057518951 | 0.827 | 0.160 | 6 | 156829296 | stop gained | C/T | snv | 5 | |||
rs373145711 | 0.732 | 0.520 | 20 | 32433408 | stop gained | C/T | snv | 2.0E-05 | 2.8E-05 | 25 | |
rs63749090 | 0.851 | 0.280 | 6 | 32038468 | missense variant | G/A | snv | 2.1E-05 | 1 | ||
rs9378251 | 0.776 | 0.320 | 6 | 32038514 | missense variant | C/T | snv | 9.2E-05 | 5.4E-04 | 1 | |
rs776989258 | 0.807 | 0.280 | 6 | 32041093 | missense variant | C/G;T | snv | 5.5E-04 | 1 | ||
rs1554700718 | 0.658 | 0.360 | 9 | 83975540 | non coding transcript exon variant | T/C | snv | 59 | |||
rs1325394060 | 0.851 | 0.320 | X | 53534144 | missense variant | C/G;T | snv | 9.5E-06 | 9 | ||
rs1566785444 | 0.827 | 0.200 | 14 | 77025671 | frameshift variant | C/- | delins | 20 | |||
rs1057518775 | 0.851 | 0.160 | 11 | 17387907 | missense variant | G/A;C | snv | 4 | |||
rs1555038111 | 0.701 | 0.480 | 11 | 118478153 | stop gained | T/G | snv | 37 | |||
rs753520553 | 0.851 | 0.280 | 17 | 42537433 | missense variant | A/G | snv | 3.2E-05 | 2.1E-05 | 10 | |
rs483352897 | 0.882 | 0.280 | 17 | 42537517 | frameshift variant | CGGCCAGGAG/- | delins | 1.2E-05 | 2.8E-05 | 9 | |
rs1554643168 | 0.851 | 0.160 | 8 | 143818077 | splice acceptor variant | T/C;G | snv | 7 | |||
rs1085307137 | 0.851 | 0.160 | 8 | 143818408 | missense variant | C/T | snv | 7.0E-06 | 5 | ||
rs1085307138 | 0.807 | 0.160 | 8 | 143817591 | splice donor variant | C/T | snv | 9 | |||
rs1085307139 | 0.925 | 0.040 | 8 | 143817380 | frameshift variant | -/C | delins | 5 | |||
rs1085307134 | 0.925 | 0.040 | 8 | 143816728 | missense variant | C/T | snv | 2 | |||
rs875989800 | 0.732 | 0.480 | 22 | 23833670 | inframe deletion | AGA/- | delins | 33 | |||
rs879255280 | 0.701 | 0.200 | 7 | 129206557 | missense variant | C/T | snv | 15 | |||
rs398124401 | 0.695 | 0.480 | 4 | 55346393 | stop gained | G/A | snv | 1.2E-04 | 2.8E-05 | 25 | |
rs1163944538 | 0.641 | 0.560 | 17 | 75494905 | frameshift variant | -/A | delins | 4.0E-06 | 73 | ||
rs1352010373 | 0.641 | 0.560 | 17 | 75489265 | splice acceptor variant | G/C | snv | 73 |