Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1057518919 | 0.851 | 0.120 | 14 | 73171023 | missense variant | T/G | snv | 5 | |||
rs1314736087 | 0.851 | 0.120 | 8 | 109575782 | frameshift variant | GA/- | delins | 4.0E-06 | 5 | ||
rs2234253 | 0.827 | 0.120 | 6 | 41161367 | missense variant | G/A;C;T | snv | 1.9E-04; 1.0E-02 | 5 | ||
rs363371 | 0.882 | 0.120 | 10 | 117226885 | TF binding site variant | G/A | snv | 0.19 | 5 | ||
rs533813519 | 0.851 | 0.120 | 1 | 226888097 | missense variant | C/A | snv | 1.9E-04 | 4.2E-05 | 5 | |
rs544706237 | 0.851 | 0.120 | 2 | 79121649 | missense variant | A/G;T | snv | 8.0E-06; 5.2E-05 | 5 | ||
rs63750053 | 0.827 | 0.120 | 14 | 73192721 | missense variant | G/T | snv | 5 | |||
rs63750635 | 0.851 | 0.120 | 17 | 46014286 | missense variant | C/T | snv | 5 | |||
rs747105516 | 0.851 | 0.120 | 7 | 56015139 | missense variant | T/C | snv | 4.0E-06 | 5 | ||
rs1189501362 | 0.882 | 0.120 | 3 | 119863583 | missense variant | G/A | snv | 7.0E-06 | 4 | ||
rs1205185774 | 0.882 | 0.120 | 14 | 77469161 | missense variant | C/T | snv | 4 | |||
rs121909345 | 0.882 | 0.120 | 2 | 74363337 | missense variant | C/T | snv | 2.8E-05 | 2.1E-05 | 4 | |
rs1235948930 | 0.882 | 0.120 | 17 | 45983865 | missense variant | C/T | snv | 7.0E-06 | 4 | ||
rs140547520 | 0.851 | 0.120 | 17 | 4945973 | missense variant | T/C | snv | 5.0E-04 | 5.9E-04 | 4 | |
rs1566650594 | 0.851 | 0.120 | 14 | 73206384 | splice acceptor variant | A/T | snv | 4 | |||
rs2814707 | 0.882 | 0.120 | 9 | 27536399 | non coding transcript exon variant | C/G;T | snv | 4 | |||
rs4877365 | 0.851 | 0.120 | 9 | 87540777 | intron variant | G/A | snv | 0.28 | 4 | ||
rs4878104 | 0.851 | 0.120 | 9 | 87578076 | intron variant | C/T | snv | 0.40 | 4 | ||
rs63750129 | 0.882 | 0.120 | 17 | 45996612 | missense variant | A/C | snv | 4.0E-06 | 4 | ||
rs63750450 | 0.851 | 0.120 | 14 | 73173571 | missense variant | A/G | snv | 4 | |||
rs63751011 | 0.925 | 0.120 | 17 | 46010418 | intron variant | C/T | snv | 4 | |||
rs747019990 | 0.851 | 0.120 | 20 | 4699336 | missense variant | C/T | snv | 3.6E-05 | 7.0E-06 | 4 | |
rs747481280 | 0.851 | 0.120 | 10 | 13132068 | missense variant | T/G | snv | 8.0E-06 | 4 | ||
rs866604606 | 0.882 | 0.120 | 22 | 21772907 | missense variant | G/A | snv | 4 | |||
rs1182182524 | 0.882 | 0.120 | 17 | 45983724 | missense variant | T/G | snv | 1.4E-05 | 3 |