Source: ALL
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1057519359 | 1.000 | 1 | 11802880 | splice donor variant | C/T | snv | 1 | ||||
rs1057519360 | 1.000 | 1 | 11801220 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 1 | ||
rs1057519361 | 1.000 | 1 | 11796382 | missense variant | G/T | snv | 1 | ||||
rs1057519362 | 1.000 | 1 | 11796324 | frameshift variant | C/- | delins | 1 | ||||
rs1057519363 | 1.000 | 1 | 11792317 | frameshift variant | C/- | del | 1 | ||||
rs1182635980 | 1.000 | 1 | 11800275 | missense variant | C/T | snv | 1 | ||||
rs138189536 | 1.000 | 1 | 11802981 | missense variant | G/A | snv | 2.0E-04 | 7.7E-05 | 1 | ||
rs1430872491 | 1.000 | 1 | 11794735 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 | 1 | ||
rs144508139 | 1.000 | 1 | 11791244 | missense variant | G/A | snv | 1.6E-05 | 1 | |||
rs1553187509 | 1.000 | 1 | 11801399 | missense variant | C/A | snv | 1 | ||||
rs1553188112 | 1.000 | 1 | 11803156 | 5 prime UTR variant | AG/- | del | 1 | ||||
rs1557761665 | 1.000 | 1 | 11794437 | frameshift variant | -/C | delins | 1 | ||||
rs200137991 | 1.000 | 1 | 11794443 | missense variant | C/A;G | snv | 1.2E-05; 4.0E-06 | 1 | |||
rs201618781 | 1.000 | 1 | 11802965 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06; 3.2E-05 | 1 | |||
rs367585605 | 1.000 | 1 | 11794385 | synonymous variant | C/T | snv | 2.4E-05; 4.0E-06 | 3.5E-05 | 1 | ||
rs368321176 | 1.000 | 1 | 11795116 | missense variant | A/G | snv | 4.0E-06 | 1.4E-05 | 1 | ||
rs371085894 | 1.000 | 1 | 11795156 | missense variant | G/A | snv | 2.4E-05 | 1.4E-05 | 1 | ||
rs373398993 | 1.000 | 1 | 11796219 | missense variant | A/T | snv | 8.0E-06 | 1.4E-05 | 1 | ||
rs377443637 | 1.000 | 1 | 11794823 | stop gained | G/A | snv | 1.2E-05 | 7.0E-06 | 1 | ||
rs45590836 | 1.000 | 1 | 11791216 | missense variant | C/T | snv | 3.2E-05 | 2.8E-05 | 1 | ||
rs543016186 | 1.000 | 1 | 11795125 | missense variant | C/G;T | snv | 4.0E-06; 4.8E-05 | 1 | |||
rs574132670 | 1.000 | 1 | 11800250 | missense variant | C/T | snv | 6.0E-05 | 1.4E-05 | 1 | ||
rs746353274 | 1.000 | 1 | 11796341 | inframe deletion | TTC/- | delins | 8.0E-06 | 7.0E-06 | 1 | ||
rs747846362 | 1.000 | 1 | 11791206 | splice donor variant | C/A | snv | 4.0E-06 | 1 | |||
rs748289202 | 1.000 | 1 | 11795126 | missense variant | G/A | snv | 7.2E-05 | 9.8E-05 | 1 |