Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1131691014 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 214 | |||
rs547984 | 0.882 | 0.040 | 1 | 237933586 | intergenic variant | A/C | snv | 0.60 | 3 | ||
rs74315331 | 0.882 | 0.040 | 1 | 171636010 | missense variant | A/C;T | snv | 3 | |||
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs17576 | 0.557 | 0.760 | 20 | 46011586 | missense variant | A/G | snv | 0.39 | 0.36 | 73 | |
rs267606929 | 0.827 | 0.120 | 10 | 13132098 | missense variant | A/G | snv | 5 | |||
rs34595252 | 0.925 | 0.040 | 5 | 111119021 | missense variant | A/G | snv | 4.3E-03 | 4.5E-03 | 2 | |
rs3858145 | 0.882 | 0.040 | 10 | 68252081 | regulatory region variant | A/G | snv | 0.33 | 3 | ||
rs523096 | 0.827 | 0.080 | 9 | 22019130 | intron variant | A/G | snv | 0.30 | 7 | ||
rs7049105 | 0.807 | 0.120 | 9 | 22028802 | intron variant | A/G | snv | 0.58 | 7 | ||
rs74315328 | 0.807 | 0.120 | 1 | 171636131 | missense variant | A/G | snv | 6 | |||
rs4986790 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 223 | ||
rs197388 | 0.925 | 0.040 | 1 | 111754860 | non coding transcript exon variant | A/T | snv | 0.27 | 2 | ||
rs1799750 | 0.592 | 0.760 | 11 | 102799765 | intron variant | C/- | delins | 0.50 | 48 | ||
rs11656696 | 0.882 | 0.040 | 17 | 10130362 | intron variant | C/A | snv | 0.36 | 5 | ||
rs12154178 | 0.925 | 0.040 | 6 | 151929945 | intron variant | C/A | snv | 0.59 | 2 | ||
rs74315339 | 0.807 | 0.120 | 1 | 171652468 | missense variant | C/A | snv | 9.8E-04 | 1.3E-04 | 6 | |
rs33912345 | 0.807 | 0.200 | 14 | 60509819 | missense variant | C/A;G | snv | 0.53 | 7 | ||
rs200710076 | 0.925 | 0.040 | 10 | 13109198 | missense variant | C/A;G;T | snv | 8.0E-06; 2.0E-05; 2.4E-05 | 2 | ||
rs3766355 | 0.882 | 0.040 | 1 | 78491756 | intron variant | C/A;T | snv | 3 | |||
rs121909194 | 0.882 | 0.040 | 1 | 171636302 | missense variant | C/G | snv | 3 | |||
rs199752860 | 0.925 | 0.040 | 1 | 171652578 | missense variant | C/G | snv | 6.9E-04 | 1.5E-04 | 2 | |
rs199746824 | 0.807 | 0.040 | 1 | 171652139 | missense variant | C/G;T | snv | 4.0E-06; 1.6E-05 | 6 | ||
rs690037 | 0.882 | 0.040 | 3 | 16354161 | intron variant | C/G;T | snv | 3 | |||
rs10038177 | 0.925 | 0.040 | 5 | 111100751 | intron variant | C/T | snv | 0.53 | 0.54 | 3 |