Source: CURATED
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs118203998 | 0.790 | 0.400 | 16 | 23603471 | stop gained | G/C;T | snv | 1.6E-05; 4.0E-06 | 8 | ||
rs180177132 | 0.790 | 0.280 | 16 | 23621362 | stop gained | C/T | snv | 6.0E-05 | 2.1E-05 | 8 | |
rs180177100 | 0.827 | 0.400 | 16 | 23635306 | stop gained | G/A | snv | 8.0E-06 | 1.4E-05 | 6 | |
rs118203999 | 0.925 | 0.200 | 16 | 23623003 | stop gained | G/A | snv | 4 | |||
rs180177097 | 0.882 | 0.080 | 16 | 23635519 | stop gained | G/A | snv | 4 | |||
rs587776419 | 0.882 | 0.200 | 16 | 23624008 | splice donor variant | C/A;G;T | snv | 4 | |||
rs757369748 | 0.882 | 0.200 | 16 | 23638072 | stop gained | G/A;T | snv | 4.0E-06 | 4 | ||
rs1555460445 | 0.925 | 0.200 | 16 | 23629936 | stop gained | G/A | snv | 3 | |||
rs180177083 | 0.925 | 0.200 | 16 | 23637865 | stop gained | G/A;T | snv | 8.0E-06; 4.0E-06 | 3 | ||
rs180177110 | 0.882 | 0.200 | 16 | 23629897 | stop gained | G/A;T | snv | 2.4E-05 | 3 | ||
rs180177111 | 0.925 | 0.080 | 16 | 23629831 | stop gained | G/A | snv | 4.0E-06 | 3 | ||
rs375699023 | 0.925 | 0.200 | 16 | 23635504 | stop gained | G/A;T | snv | 4.0E-05 | 3 | ||
rs587776417 | 0.925 | 0.080 | 16 | 23629276 | splice acceptor variant | C/A;G;T | snv | 4.0E-06 | 3 | ||
rs587776527 | 0.925 | 0.080 | 16 | 23607958 | stop gained | G/A;C | snv | 2.0E-05 | 3 | ||
rs786203821 | 0.925 | 0.200 | 16 | 23635606 | stop gained | G/A | snv | 1.4E-05 | 3 | ||
rs876659036 | 1.000 | 0.080 | 16 | 23622997 | stop gained | C/A;G | snv | 8.0E-06; 8.0E-06 | 3 | ||
rs1057517539 | 1.000 | 0.080 | 16 | 23629214 | stop gained | G/T | snv | 2 | |||
rs1057517585 | 1.000 | 0.080 | 16 | 23641155 | start lost | C/T | snv | 2 | |||
rs1060499814 | 1.000 | 0.080 | 16 | 23638069 | splice donor variant | C/T | snv | 7.0E-06 | 2 | ||
rs1060499827 | 1.000 | 0.080 | 16 | 23608014 | splice acceptor variant | T/G | snv | 2 | |||
rs1060502787 | 0.925 | 0.160 | 16 | 23626399 | splice acceptor variant | T/C;G | snv | 2 | |||
rs1060502804 | 1.000 | 0.080 | 16 | 23624095 | splice acceptor variant | C/A;G | snv | 4.0E-06 | 2 | ||
rs1555459999 | 1.000 | 0.080 | 16 | 23626352 | stop gained | C/A | snv | 2 | |||
rs1555461154 | 1.000 | 0.080 | 16 | 23634871 | stop gained | G/A | snv | 2 | |||
rs1555462026 | 1.000 | 0.080 | 16 | 23637849 | splice donor variant | C/T | snv | 2 |