Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1056836 | 0.581 | 0.680 | 2 | 38071060 | missense variant | G/C | snv | 0.51 | 58 | ||
rs121913499 | 0.605 | 0.520 | 2 | 208248389 | missense variant | G/A;C;T | snv | 51 | |||
rs3834129 | 0.627 | 0.560 | 2 | 201232809 | upstream gene variant | AGTAAG/- | del | 0.48 | 38 | ||
rs895520 | 0.689 | 0.320 | 2 | 100961475 | intron variant | G/A | snv | 0.35 | 23 | ||
rs10165970 | 0.708 | 0.320 | 2 | 100840527 | intron variant | G/A | snv | 0.16 | 18 | ||
rs17024869 | 0.708 | 0.320 | 2 | 100843581 | intron variant | T/C | snv | 8.3E-02 | 18 | ||
rs7581886 | 0.708 | 0.320 | 2 | 100964784 | intron variant | C/T | snv | 0.92 | 18 | ||
rs1207011218 | 0.742 | 0.440 | 2 | 203870794 | synonymous variant | C/T | snv | 12 | |||
rs2305160 | 0.776 | 0.200 | 2 | 100974842 | missense variant | A/G | snv | 0.71 | 0.75 | 9 | |
rs75002266 | 0.827 | 0.160 | 2 | 147939241 | missense variant | G/A | snv | 3.2E-03 | 3.0E-03 | 6 | |
rs113686495 | 0.925 | 0.160 | 2 | 201258757 | intron variant | ATTCTGTC/- | delins | 4 | |||
rs3769821 | 0.851 | 0.200 | 2 | 201258707 | intron variant | C/T | snv | 0.57 | 4 | ||
rs4150506 | 0.851 | 0.120 | 2 | 127262970 | intron variant | G/A | snv | 0.18 | 4 | ||
rs3900115 | 1.000 | 0.120 | 2 | 201185954 | synonymous variant | A/G | snv | 0.45 | 0.49 | 3 | |
rs13113 | 0.925 | 0.200 | 2 | 201287439 | 3 prime UTR variant | T/A | snv | 0.33 | 2 | ||
rs3789068 | 0.925 | 0.120 | 2 | 111151670 | intron variant | A/G | snv | 0.41 | 2 | ||
rs1921310 | 1.000 | 0.120 | 2 | 161192690 | intron variant | A/G | snv | 0.15 | 1 | ||
rs2637988 | 1.000 | 0.120 | 2 | 113119202 | intron variant | G/A | snv | 0.53 | 1 | ||
rs6736233 | 1.000 | 0.120 | 2 | 201254251 | intron variant | G/C | snv | 0.16 | 1 | ||
rs387907272 | 0.572 | 0.520 | 3 | 38141150 | stop lost | T/C | snv | 5.2E-05 | 7.0E-06 | 73 | |
rs5743836 | 0.658 | 0.440 | 3 | 52226766 | intron variant | A/G | snv | 0.20 | 31 | ||
rs1127717 | 0.925 | 0.160 | 3 | 126107216 | missense variant | T/C | snv | 0.18 | 0.20 | 3 | |
rs1003421753 | 1.000 | 0.120 | 3 | 159989088 | missense variant | C/T | snv | 1 | |||
rs1447708158 | 1.000 | 0.120 | 3 | 12604160 | synonymous variant | C/T | snv | 7.0E-06 | 1 | ||
rs150865017 | 1.000 | 0.120 | 3 | 126154627 | missense variant | G/A;T | snv | 1.6E-05; 4.0E-06 | 1 |