Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs137854521 | 0.851 | 0.200 | 11 | 22221100 | frameshift variant | -/A | delins | 9 | |||
rs1556880327 | X | 31774182 | frameshift variant | -/T | delins | 2 | |||||
rs886044913 | 9 | 116699102 | frameshift variant | -/TA | delins | 1 | |||||
rs80338800 | 0.827 | 0.120 | 15 | 42387803 | frameshift variant | A/- | delins | 21 | |||
rs886044915 | 11 | 22236272 | missense variant | A/C | snv | 1 | |||||
rs776474397 | 11 | 22227300 | splice acceptor variant | A/G | snv | 1 | |||||
rs1553521119 | 0.925 | 0.120 | 2 | 71513892 | frameshift variant | C/- | del | 5 | |||
rs1114167439 | X | 32438240 | splice donor variant | C/- | delins | 1 | |||||
rs28937900 | 0.752 | 0.160 | 19 | 46756276 | missense variant | C/A;T | snv | 1.0E-03 | 33 | ||
rs116840786 | 3 | 8733962 | missense variant | C/A;T | snv | 1 | |||||
rs201892814 | 1.000 | 0.040 | 15 | 42403721 | intron variant | C/G | snv | 3.1E-03; 2.4E-05 | 3.1E-03 | 8 | |
rs142239530 | 0.790 | 0.320 | 11 | 4091328 | missense variant | C/G;T | snv | 4.4E-05 | 24 | ||
rs1208636573 | 0.807 | 0.120 | 1 | 155612098 | stop gained | C/G;T | snv | 4.0E-06; 4.0E-06 | 15 | ||
rs770905160 | 0.882 | 0.120 | 2 | 71656236 | stop gained | C/G;T | snv | 1.2E-05 | 5 | ||
rs768090444 | 1.000 | 0.120 | 15 | 42410645 | stop gained | C/G;T | snv | 4.0E-06 | 2.1E-05 | 3 | |
rs886042604 | 1.000 | 0.120 | X | 33020138 | splice donor variant | C/G;T | snv | 3 | |||
rs622288 | 0.807 | 0.120 | 1 | 155612848 | missense variant | C/T | snv | 3.6E-05 | 4.2E-05 | 15 | |
rs201518227 | 1.000 | 1 | 179917914 | missense variant | C/T | snv | 3.2E-05 | 5.6E-05 | 13 | ||
rs104894080 | 0.790 | 0.120 | 8 | 74364005 | missense variant | C/T | snv | 3.2E-05 | 4.2E-05 | 8 | |
rs886039785 | 0.925 | 0.120 | X | 31496876 | stop gained | C/T | snv | 7 | |||
rs1553846331 | 0.925 | 0.120 | 4 | 3473504 | missense variant | C/T | snv | 4 | |||
rs398123383 | 1.000 | 0.120 | 6 | 129460287 | stop gained | C/T | snv | 1.6E-05 | 7.0E-06 | 4 | |
rs756015202 | 0.925 | 0.120 | 4 | 3493047 | missense variant | C/T | snv | 5.5E-06 | 4 | ||
rs1555452876 | 1.000 | 16 | 2106222 | inframe deletion | CTC/- | delins | 5 | ||||
rs752298579 | 0.701 | 0.480 | 22 | 20061538 | missense variant | G/A | snv | 1.4E-04 | 7.0E-06 | 48 |