Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs724159951 | 21 | 37493101 | missense variant | T/C | snv | 6 | |||||
rs724159952 | 21 | 37490451 | frameshift variant | -/G | delins | 6 | |||||
rs724159954 | 21 | 37490353 | frameshift variant | -/A | delins | 6 | |||||
rs724159956 | 21 | 37496249 | frameshift variant | -/G | delins | 6 | |||||
rs1189909394 | 11 | 64298178 | missense variant | G/A;C | snv | 7.0E-06 | 5 | ||||
rs1565369746 | 11 | 64297507 | missense variant | C/A | snv | 5 | |||||
rs879255368 | 19 | 41984953 | missense variant | C/G;T | snv | 5 | |||||
rs1553510492 | 2 | 161419040 | missense variant | A/G | snv | 4 | |||||
rs1060499740 | 14 | 102348559 | stop lost | A/C | snv | 3 | |||||
rs1461148946 | X | 154354979 | missense variant | A/C | snv | 9.3E-06 | 3 | ||||
rs1553315329 | 2 | 32116153 | stop gained | C/A;T | snv | 3 | |||||
rs137939966 | 17 | 12752540 | missense variant | A/G | snv | 1.6E-04 | 8.4E-04 | 2 | |||
rs797044938 | 20 | 63442529 | missense variant | C/A;G | snv | 2 | |||||
rs1057517891 | 15 | 89333346 | stop gained | G/A | snv | 1 | |||||
rs1372605067 | 22 | 31821593 | frameshift variant | CT/- | delins | 4.0E-06 | 1 | ||||
rs1444879414 | 5 | 126595148 | frameshift variant | -/T | delins | 6.0E-06 | 1 | ||||
rs1553531385 | 2 | 166012262 | frameshift variant | AATA/- | del | 1 | |||||
rs1560747815 | 4 | 127939999 | splice acceptor variant | T/A | snv | 1 | |||||
rs1564367605 | 9 | 135768856 | missense variant | G/A | snv | 1 | |||||
rs1567379470 | 16 | 31001195 | splice acceptor variant | T/C | snv | 1 | |||||
rs1568927820 | 20 | 63439686 | missense variant | T/C | snv | 1 | |||||
rs1568940442 | 20 | 63444765 | missense variant | G/A | snv | 1 | |||||
rs1569232705 | 22 | 31897565 | stop gained | C/G | snv | 1 | |||||
rs375562245 | 11 | 66566363 | stop gained | G/A;C | snv | 4.0E-06 | 1 | ||||
rs778003597 | 5 | 126559300 | frameshift variant | -/G | delins | 8.0E-06 | 7.0E-06 | 1 |