Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1267969615 | 0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 | 100 | ||
rs11549465 | 0.597 | 0.680 | 14 | 61740839 | missense variant | C/T | snv | 8.8E-02 | 7.7E-02 | 55 | |
rs2273535 | 0.645 | 0.360 | 20 | 56386485 | missense variant | A/C;T | snv | 0.28 | 38 | ||
rs6504950 | 0.807 | 0.120 | 17 | 54979110 | intron variant | G/A | snv | 0.29 | 7 | ||
rs11614913 | 0.512 | 0.760 | 12 | 53991815 | mature miRNA variant | C/T | snv | 0.39 | 0.34 | 111 | |
rs920778 | 0.633 | 0.480 | 12 | 53966448 | intron variant | G/A | snv | 0.57 | 36 | ||
rs12826786 | 0.683 | 0.480 | 12 | 53961717 | upstream gene variant | C/T | snv | 0.38 | 26 | ||
rs9939609 | 0.559 | 0.720 | 16 | 53786615 | intron variant | T/A | snv | 0.41 | 98 | ||
rs5743836 | 0.658 | 0.440 | 3 | 52226766 | intron variant | A/G | snv | 0.20 | 31 | ||
rs77375493 | 0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 | 187 | ||
rs34301344 | 0.689 | 0.400 | 13 | 49630893 | stop gained | G/A | snv | 9.7E-03 | 7.9E-03 | 22 | |
rs1206846668 | 0.724 | 0.400 | 11 | 49185773 | missense variant | G/A | snv | 4.1E-06 | 16 | ||
rs17822931 | 0.827 | 0.080 | 16 | 48224287 | missense variant | C/G;T | snv | 4.0E-06; 0.22 | 0.13 | 7 | |
rs1989969 | 0.827 | 0.120 | 12 | 47884227 | intron variant | A/C;G;T | snv | 0.60 | 8 | ||
rs4987188 | 0.790 | 0.200 | 2 | 47416318 | missense variant | G/A;T | snv | 1.3E-02; 2.0E-05 | 11 | ||
rs11615 | 0.572 | 0.640 | 19 | 45420395 | synonymous variant | A/G | snv | 0.50 | 0.55 | 62 | |
rs3212986 | 0.620 | 0.400 | 19 | 45409478 | stop gained | C/A;G;T | snv | 0.29; 4.3E-06; 4.3E-06 | 42 | ||
rs13181 | 0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 | 134 | ||
rs36053993 | 0.677 | 0.280 | 1 | 45331556 | missense variant | C/T | snv | 3.0E-03 | 3.3E-03 | 31 | |
rs1799782 | 0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 | 151 | |
rs25487 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 205 | |
rs62625307 | 0.827 | 0.200 | 17 | 43091933 | stop gained | G/A | snv | 4.0E-06 | 8 | ||
rs3136797 | 0.827 | 0.120 | 8 | 42369287 | missense variant | C/G | snv | 1.1E-02 | 1.1E-02 | 10 | |
rs132793 | 0.851 | 0.160 | 22 | 41667677 | downstream gene variant | A/C;G;T | snv | 7 | |||
rs132770 | 0.752 | 0.320 | 22 | 41621260 | 5 prime UTR variant | A/G | snv | 0.83 | 14 |