Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1805794 | 0.605 | 0.600 | 8 | 89978251 | missense variant | C/G | snv | 0.35 | 0.31 | 41 | |
rs1801516 | 0.627 | 0.400 | 11 | 108304735 | missense variant | G/A | snv | 0.11 | 0.11 | 39 | |
rs3834129 | 0.627 | 0.560 | 2 | 201232809 | upstream gene variant | AGTAAG/- | del | 0.48 | 38 | ||
rs1258159645 | 0.630 | 0.600 | 16 | 69711128 | missense variant | G/A | snv | 7.0E-06 | 37 | ||
rs3218536 | 0.620 | 0.440 | 7 | 152648922 | missense variant | C/G;T | snv | 4.0E-06; 6.4E-02 | 37 | ||
rs20576 | 0.637 | 0.400 | 8 | 23200707 | missense variant | T/G | snv | 0.15 | 0.14 | 34 | |
rs2066853 | 0.653 | 0.600 | 7 | 17339486 | missense variant | G/A | snv | 0.15 | 0.22 | 34 | |
rs217727 | 0.641 | 0.480 | 11 | 1995678 | non coding transcript exon variant | G/A | snv | 0.20 | 34 | ||
rs10936599 | 0.637 | 0.600 | 3 | 169774313 | synonymous variant | C/T | snv | 0.29 | 0.21 | 32 | |
rs9282861 | 0.658 | 0.440 | 16 | 28606193 | missense variant | C/T | snv | 31 | |||
rs1042028 | 0.658 | 0.440 | 16 | 28606193 | missense variant | C/T | snv | 0.22 | 0.30 | 30 | |
rs2070874 | 0.672 | 0.560 | 5 | 132674018 | 5 prime UTR variant | C/T | snv | 0.28 | 0.28 | 27 | |
rs1056827 | 0.683 | 0.400 | 2 | 38075034 | missense variant | C/A | snv | 0.32 | 0.35 | 24 | |
rs2250889 | 0.667 | 0.520 | 20 | 46013767 | missense variant | G/C;T | snv | 0.88; 1.6E-05 | 24 | ||
rs8034191 | 0.695 | 0.440 | 15 | 78513681 | intron variant | T/C | snv | 0.27 | 24 | ||
rs762551 | 0.701 | 0.400 | 15 | 74749576 | intron variant | C/A | snv | 0.67 | 23 | ||
rs2031920 | 0.695 | 0.240 | 10 | 133526341 | non coding transcript exon variant | C/T | snv | 3.1E-02 | 20 | ||
rs1805377 | 0.689 | 0.480 | 5 | 83353124 | splice acceptor variant | G/A | snv | 0.23 | 0.25 | 19 | |
rs3734091 | 0.689 | 0.280 | 5 | 83204915 | missense variant | G/T | snv | 2.3E-02 | 1.4E-02 | 19 | |
rs28360071 | 0.708 | 0.240 | 5 | 83142293 | intron variant | GATGAGGAAACTAACTCTCAGTGGTGTTTA/- | delins | 0.48 | 18 | ||
rs6869366 | 0.701 | 0.280 | 5 | 83075927 | intron variant | T/G | snv | 9.2E-02 | 18 | ||
rs34009635 | 0.716 | 0.360 | 11 | 102713445 | missense variant | A/G | snv | 2.5E-03 | 6.2E-04 | 17 | |
rs35866072 | 0.716 | 0.360 | 11 | 102713373 | missense variant | T/G | snv | 6.0E-02 | 9.8E-02 | 17 | |
rs2107425 | 0.732 | 0.280 | 11 | 1999845 | intron variant | C/T | snv | 16 | |||
rs7003908 | 0.716 | 0.320 | 8 | 47858141 | intron variant | C/A | snv | 0.66 | 16 |