Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs530391015 | 0.882 | 0.080 | 14 | 104703445 | stop gained | G/A;C;T | snv | 4.0E-06 | 5 | ||
rs17319721 | 0.925 | 0.080 | 4 | 76447694 | intron variant | G/A | snv | 0.34 | 5 | ||
rs118203478 | 0.882 | 0.200 | 9 | 132911492 | frameshift variant | -/A;AA | delins | 5 | |||
rs1555487316 | 0.882 | 0.240 | 16 | 20348247 | missense variant | A/C | snv | 5 | |||
rs867394500 | 0.851 | 0.080 | 17 | 63477301 | missense variant | G/T | snv | 4 | |||
rs1569492161 | 0.882 | 0.280 | X | 108586729 | missense variant | G/C | snv | 4 | |||
rs7456421 | 0.882 | 0.120 | 7 | 139715976 | synonymous variant | G/C | snv | 0.27 | 0.37 | 4 | |
rs281874657 | 0.925 | 0.160 | X | 108586717 | stop gained | C/T | snv | 3 | |||
rs7222094 | 0.882 | 0.120 | 17 | 45290287 | intron variant | T/C | snv | 0.54 | 3 | ||
rs1553948516 | 0.925 | 0.120 | 4 | 76181009 | frameshift variant | -/G | delins | 3 | |||
rs1382048442 | 0.925 | 0.160 | 10 | 99797141 | missense variant | T/C | snv | 4.0E-06 | 2 | ||
rs538166970 | 0.925 | 0.080 | 17 | 63496920 | missense variant | G/A;C | snv | 1.6E-05; 4.0E-06 | 2 | ||
rs138207257 | 0.925 | 0.160 | 10 | 97611535 | missense variant | G/A;T | snv | 2.0E-05; 1.1E-04 | 2 | ||
rs202047589 | 0.925 | 0.160 | 10 | 97599780 | missense variant | C/T | snv | 4.4E-05 | 7.0E-05 | 2 | |
rs1567202189 | 1.000 | 0.080 | 16 | 2111276 | inframe insertion | -/GTG | ins | 2 | |||
rs367825197 | 0.925 | 0.080 | 7 | 131509412 | stop gained | G/A | snv | 4.0E-06 | 2 | ||
rs12704795 | 1.000 | 0.080 | 7 | 95424695 | intron variant | T/G | snv | 0.34 | 1 |