Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
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 | ||
rs3818762 | 1 | 11790946 | intron variant | G/C | snv | 0.26; 1.7E-03 | 0.23 | 1 | |||
rs45553335 | 1 | 11798900 | intron variant | T/C | snv | 0.14 | 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 | ||
rs576853093 | 1 | 11790946 | intron variant | -/C;CACACACACACAC | ins | 6.2E-03 | 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 | ||
rs748571395 | 1.000 | 1 | 11796306 | missense variant | G/A | snv | 8.0E-06 | 7.0E-06 | 1 | ||
rs749765738 | 1.000 | 1 | 11792276 | splice donor variant | A/C;G | snv | 4.0E-06 | 1 | |||
rs750323424 | 1.000 | 1 | 11794765 | missense variant | C/T | snv | 1.2E-05 | 3.5E-05 | 1 | ||
rs754015864 | 1.000 | 1 | 11794401 | missense variant | A/G | snv | 1.6E-05 | 1 | |||
rs758206023 | 1.000 | 1 | 11790843 | missense variant | G/A;C | snv | 4.0E-06; 4.0E-06 | 1 | |||
rs759031330 | 1.000 | 1 | 11794862 | missense variant | G/A | snv | 7.0E-06 | 1 | |||
rs763539350 | 1.000 | 1 | 11802915 | stop gained | G/A;C | snv | 8.0E-06; 4.0E-05 | 1 | |||
rs765586205 | 1.000 | 1 | 11793907 | splice region variant | C/T | snv | 4.9E-05 | 7.0E-06 | 1 | ||
rs767890671 | 1.000 | 1 | 11801177 | missense variant | G/C | snv | 1.1E-04 | 1 | |||
rs768434408 | 1.000 | 1 | 11790682 | stop lost | A/G | snv | 4.0E-06 | 7.0E-06 | 1 | ||
rs769381688 | 1.000 | 1 | 11801257 | missense variant | G/A | snv | 4.0E-06 | 1 | |||
rs769953411 | 1.000 | 1 | 11794732 | missense variant | C/T | snv | 2.0E-05 | 1 |