Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs121913371 | 1.000 | 0.040 | 7 | 140781678 | missense variant | G/A;T | snv | 4.0E-06; 8.0E-06 | 3 | ||
rs6090453 | 1.000 | 0.040 | 20 | 62724010 | intron variant | C/A;G;T | snv | 2 | |||
rs6768972 | 1.000 | 0.160 | 3 | 3180101 | upstream gene variant | A/C;G | snv | 2 | |||
rs386834055 | 0.925 | 0.320 | 8 | 99853469 | frameshift variant | -/A | delins | 9 | |||
rs1564421528 | 0.882 | 0.080 | 10 | 28614666 | stop gained | C/T | snv | 16 | |||
rs1334099693 | 0.882 | 0.080 | 6 | 21594732 | missense variant | C/A;T | snv | 4.6E-06 | 11 | ||
rs1131691299 | 0.882 | 0.160 | X | 41341587 | frameshift variant | C/- | del | 9 | |||
rs1672753 | 0.882 | 0.240 | 3 | 3179746 | upstream gene variant | C/T | snv | 0.71 | 4 | ||
rs1554944271 | 0.851 | 0.240 | 11 | 686925 | missense variant | C/G | snv | 14 | |||
rs1566785990 | 0.851 | 0.120 | 14 | 77026534 | missense variant | A/G | snv | 12 | |||
rs1554504663 | 0.851 | 0.080 | 8 | 23007627 | missense variant | G/A | snv | 11 | |||
rs397518483 | 0.851 | 0.120 | 3 | 25596428 | missense variant | C/A;T | snv | 9 | |||
rs1057519521 | 0.851 | 0.120 | 10 | 129963375 | frameshift variant | TCTC/- | del | 8 | |||
rs149830411 | 0.827 | 0.360 | 17 | 46171276 | stop gained | G/A | snv | 5.2E-05 | 5.6E-05 | 15 | |
rs765243124 | 0.827 | 0.160 | 10 | 104033953 | frameshift variant | CTCT/- | delins | 4.0E-06 | 14 | ||
rs121908595 | 0.827 | 0.280 | 15 | 66436843 | missense variant | A/G | snv | 4.0E-06 | 8 | ||
rs1554389088 | 0.807 | 0.160 | 7 | 44243526 | missense variant | G/A | snv | 27 | |||
rs1131691771 | 0.807 | 0.160 | 6 | 78958469 | splice donor variant | ACTT/- | delins | 18 | |||
rs797044849 | 0.807 | 0.160 | 12 | 13567164 | missense variant | C/A;G;T | snv | 4.0E-06 | 17 | ||
rs1567941252 | 0.807 | 0.240 | 17 | 38739601 | missense variant | G/A | snv | 10 | |||
rs1555453538 | 0.807 | 0.280 | 15 | 89326678 | frameshift variant | A/- | delins | 7 | |||
rs4263839 | 0.807 | 0.160 | 9 | 114804160 | intron variant | A/G | snv | 0.75 | 7 | ||
rs1555206402 | 0.790 | 0.320 | 11 | 119093274 | stop lost | GCCCATTAACTGGTTTGTGGGGCACAGATGCCTGGGTTGCTGCTGTCCAGTGCCT/- | delins | 26 | |||
rs1448259271 | 0.790 | 0.240 | 14 | 77027279 | stop gained | C/A;T | snv | 23 | |||
rs1562114190 | 0.790 | 0.160 | 6 | 78946061 | frameshift variant | A/- | delins | 21 |