Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs760187215 | 1.000 | 0.040 | 14 | 23431859 | missense variant | C/T | snv | 8.0E-06 | 6 | ||
rs1114167453 | 1.000 | 19 | 45385569 | stop gained | G/C | snv | 4 | ||||
rs150974575 | 1.000 | 0.160 | 2 | 219423817 | stop gained | C/T | snv | 1.2E-05 | 3 | ||
rs1557194525 | 1.000 | 0.120 | X | 154420961 | frameshift variant | C/- | del | 3 | |||
rs371678190 | 1.000 | 0.040 | 2 | 178578066 | stop gained | G/A;T | snv | 4.0E-06; 5.6E-05 | 3 | ||
rs397516028 | 1.000 | 0.080 | 11 | 47332594 | missense variant | A/G | snv | 3 | |||
rs397516142 | 1.000 | 0.080 | 14 | 23425357 | missense variant | C/A;G;T | snv | 8.0E-06; 1.6E-05 | 3 | ||
rs45544633 | 1.000 | 0.080 | 14 | 23417174 | missense variant | G/A | snv | 3 | |||
rs57508089 | 1.000 | 0.080 | 1 | 156136110 | synonymous variant | C/T | snv | 3 | |||
rs730880365 | 1.000 | 0.040 | 2 | 178549998 | frameshift variant | -/T | delins | 8.1E-06 | 3 | ||
rs794728602 | 1.000 | 0.040 | 1 | 156115168 | missense variant | G/A | snv | 3 | |||
rs886040968 | 1.000 | 0.040 | 5 | 128178664 | frameshift variant | GTCTGGTGGCT/- | delins | 3 | |||
rs140743001 | 1.000 | 0.040 | 2 | 178630250 | stop gained | G/A | snv | 8.1E-06 | 1.4E-05 | 2 | |
rs1553603152 | 1.000 | 0.040 | 2 | 178570586 | stop gained | G/T | snv | 2 | |||
rs1553742630 | 1.000 | 0.080 | 2 | 178633900 | frameshift variant | -/C | ins | 2 | |||
rs1553974835 | 1.000 | 0.040 | 4 | 173529091 | stop gained | C/A | snv | 2 | |||
rs1554105614 | 1.000 | 0.080 | 6 | 7555773 | stop gained | C/T | snv | 2 | |||
rs1564664312 | 1.000 | 0.040 | 10 | 110821333 | missense variant | T/A | snv | 2 | |||
rs199473161 | 1.000 | 0.080 | 3 | 38586038 | missense variant | G/A;T | snv | 2 | |||
rs267607002 | 1.000 | 0.040 | 10 | 110812303 | missense variant | C/A;T | snv | 2 | |||
rs267607483 | 1.000 | 0.160 | 2 | 219420349 | splice region variant | A/G;T | snv | 2 | |||
rs267607554 | 1.000 | 0.080 | 1 | 156135925 | stop gained | C/T | snv | 2 | |||
rs267607573 | 1.000 | 0.080 | 1 | 156134865 | stop gained | C/T | snv | 2 | |||
rs267607618 | 1.000 | 0.080 | 1 | 156136350 | stop gained | C/T | snv | 2 | |||
rs267607646 | 1.000 | 0.080 | 1 | 156115265 | frameshift variant | -/G | delins | 2 |