Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 | |||
rs1131691014 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 214 | |||
rs878854066 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 213 | |||
rs1800872 | 0.495 | 0.840 | 1 | 206773062 | 5 prime UTR variant | T/G | snv | 0.69 | 119 | ||
rs1800896 | 0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 | 113 | ||
rs1800871 | 0.508 | 0.800 | 1 | 206773289 | 5 prime UTR variant | A/G | snv | 0.69 | 108 | ||
rs2010963 | 0.542 | 0.840 | 6 | 43770613 | 5 prime UTR variant | C/G | snv | 0.68 | 82 | ||
rs3212227 | 0.566 | 0.840 | 5 | 159315942 | 3 prime UTR variant | T/G | snv | 0.26 | 65 | ||
rs3025039 | 0.576 | 0.720 | 6 | 43784799 | 3 prime UTR variant | C/T | snv | 0.13 | 62 | ||
rs2243250 | 0.570 | 0.760 | 5 | 132673462 | upstream gene variant | C/T | snv | 0.35 | 61 | ||
rs20417 | 0.576 | 0.600 | 1 | 186681189 | non coding transcript exon variant | C/G;T | snv | 57 | |||
rs28362491 | 0.592 | 0.720 | 4 | 102500998 | non coding transcript exon variant | ATTG/- | delins | 56 | |||
rs5275 | 0.583 | 0.560 | 1 | 186673926 | 3 prime UTR variant | A/G;T | snv | 55 | |||
rs2070744 | 0.608 | 0.680 | 7 | 150992991 | intron variant | C/T | snv | 0.70 | 54 | ||
rs243865 | 0.600 | 0.640 | 16 | 55477894 | intron variant | C/T | snv | 0.19 | 48 | ||
rs833061 | 0.605 | 0.600 | 6 | 43769749 | upstream gene variant | C/G;T | snv | 42 | |||
rs10889677 | 0.627 | 0.720 | 1 | 67259437 | 3 prime UTR variant | C/A | snv | 0.27 | 40 | ||
rs1800625 | 0.641 | 0.680 | 6 | 32184665 | upstream gene variant | A/G | snv | 0.15 | 39 | ||
rs1570360 | 0.641 | 0.680 | 6 | 43770093 | upstream gene variant | A/G | snv | 0.76 | 38 | ||
rs3834129 | 0.627 | 0.560 | 2 | 201232809 | upstream gene variant | AGTAAG/- | del | 0.48 | 38 | ||
rs4646903 | 0.630 | 0.640 | 15 | 74719300 | downstream gene variant | A/G;T | snv | 0.18 | 36 | ||
rs689466 | 0.637 | 0.640 | 1 | 186681619 | upstream gene variant | T/C | snv | 0.17 | 33 | ||
rs7799039 | 0.649 | 0.560 | 7 | 128238730 | upstream gene variant | G/A;C | snv | 33 | |||
rs1799752 | 0.677 | 0.480 | 17 | 63488529 | intron variant | -/TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT | delins | 25 | |||
rs187115 | 0.695 | 0.320 | 11 | 35154612 | intron variant | T/C | snv | 0.37 | 22 |