Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs267607183 | 0.882 | 0.080 | 14 | 104703440 | missense variant | G/A | snv | 3 | |||
rs2720709 | 0.882 | 0.160 | 8 | 128046110 | intron variant | G/A;C | snv | 3 | |||
rs281874762 | 0.882 | 0.160 | X | 108578114 | stop gained | G/A;T | snv | 5.5E-06 | 3 | ||
rs4897081 | 0.882 | 0.160 | 6 | 149115402 | upstream gene variant | G/A;T | snv | 3 | |||
rs890336 | 0.882 | 0.160 | 18 | 74520377 | 3 prime UTR variant | C/G;T | snv | 3 | |||
rs12137135 | 0.925 | 0.080 | 1 | 22348728 | intergenic variant | A/C;G | snv | 2 | |||
rs145640112 | 0.925 | 0.080 | 4 | 186250267 | missense variant | A/C;G | snv | 1.8E-04; 4.0E-06 | 2 | ||
rs1516792 | 0.925 | 0.080 | 2 | 112778356 | intron variant | G/A | snv | 2 | |||
rs2413396 | 0.925 | 0.080 | 22 | 36312039 | intron variant | C/G;T | snv | 0.88 | 2 | ||
rs2802723 | 0.925 | 0.080 | 1 | 243335010 | intron variant | T/C;G | snv | 2 | |||
rs281874682 | 0.925 | 0.080 | X | 108598805 | missense variant | C/A;T | snv | 5.5E-06 | 2 | ||
rs2838302 | 0.925 | 0.080 | 21 | 43419273 | intron variant | A/G | snv | 1.0E-01 | 2 | ||
rs301640 | 0.925 | 0.080 | 13 | 60885853 | intron variant | C/G;T | snv | 2 | |||
rs370819889 | 0.925 | 0.080 | 4 | 73416353 | missense variant | C/A;T | snv | 8.0E-06; 9.6E-05 | 2 | ||
rs373971520 | 0.925 | 0.080 | 19 | 2568808 | intron variant | CA/-;CACA | delins | 2 | |||
rs374118649 | 0.925 | 0.080 | 3 | 58097965 | missense variant | A/G;T | snv | 3.6E-05 | 2 | ||
rs6954996 | 0.925 | 0.080 | 7 | 6401627 | non coding transcript exon variant | G/A;T | snv | 2 | |||
rs702483 | 0.925 | 0.080 | 7 | 6387310 | intron variant | C/A;T | snv | 0.54 | 2 | ||
rs760452842 | 0.925 | 0.080 | 19 | 50906983 | missense variant | T/G | snv | 4.0E-06 | 2 | ||
rs904520404 | 0.925 | 0.080 | 6 | 24302010 | stop gained | G/A;C | snv | 4.0E-06; 4.0E-06 | 2 | ||
rs9395890 | 0.925 | 0.080 | 6 | 53956196 | intron variant | G/A;T | snv | 2 | |||
rs112417755 | 1.000 | 0.080 | 10 | 8073738 | splice acceptor variant | G/C;T | snv | 1 | |||
rs1452199941 | 0.827 | 0.160 | 4 | 140670787 | missense variant | T/C | snv | 7.0E-06 | 5 | ||
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs752390951 | 0.925 | 0.080 | 19 | 50908408 | missense variant | G/T | snv | 8.0E-06 | 7.0E-06 | 2 |