Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1057518962 | X | 32573812 | stop gained | C/A;G;T | snv | 5.5E-06; 5.5E-06 | 6 | ||||
rs1555358382 | 14 | 54844115 | stop gained | G/A | snv | 6 | |||||
rs1256028809 | 1.000 | 18 | 70030114 | splice region variant | A/T | snv | 4.0E-06 | 5 | |||
rs760361706 | 22 | 46235326 | missense variant | G/C | snv | 4.0E-06 | 4 | ||||
rs1555420508 | 15 | 42387891 | splice region variant | G/A | snv | 3 | |||||
rs757725417 | 2 | 86144399 | missense variant | C/G;T | snv | 4.0E-06; 4.0E-06 | 3 | ||||
rs1057518805 | 1 | 202596928 | inframe deletion | ATAGTC/- | delins | 2 | |||||
rs1356874787 | 20 | 3889103 | start lost | G/A | snv | 6.7E-06 | 2 | ||||
rs1373219981 | 1 | 17011736 | start lost | C/A | snv | 1.3E-05 | 2 | ||||
rs1405183655 | 16 | 74719132 | missense variant | C/G;T | snv | 4.0E-06 | 2 | ||||
rs201573646 | 6 | 43640526 | missense variant | G/A | snv | 1.0E-04 | 1.4E-05 | 2 | |||
rs369447743 | 2 | 171434679 | synonymous variant | C/T | snv | 7.4E-04 | 7.7E-05 | 2 | |||
rs746673818 | 17 | 42562625 | start lost | G/A | snv | 2 | |||||
rs764492939 | 17 | 42562414 | start lost | G/A | snv | 1.6E-05 | 2.1E-05 | 2 | |||
rs35049558 | 0.851 | 0.040 | 12 | 110914287 | frameshift variant | -/CT | ins | 8.0E-06 | 8 | ||
rs1057518957 | 1.000 | 0.040 | 2 | 232535143 | missense variant | G/T | snv | 4 | |||
rs1057518958 | 1.000 | 0.040 | 2 | 232531353 | frameshift variant | T/- | del | 4 | |||
rs764959600 | 1.000 | 0.040 | 22 | 38169424 | start lost | C/A;T | snv | 4.0E-06 | 3 | ||
rs1064795760 | 0.882 | 0.080 | 9 | 92719007 | inframe deletion | ATT/- | del | 14 | |||
rs104894369 | 0.807 | 0.080 | 12 | 110914287 | missense variant | C/A;T | snv | 10 | |||
rs137853306 | 0.882 | 0.080 | 9 | 35689265 | missense variant | C/T | snv | 6 | |||
rs121908211 | 0.882 | 0.080 | 19 | 13371744 | missense variant | C/T | snv | 5 | |||
rs1373863123 | 1.000 | 0.080 | 7 | 5529540 | missense variant | G/A | snv | 4 | |||
rs199474714 | 0.925 | 0.080 | 1 | 154173113 | missense variant | C/T | snv | 4 | |||
rs75586164 | 0.925 | 0.080 | 5 | 70070651 | missense variant | C/T | snv | 1.3E-04 | 4 |