Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs12083239 | 0.925 | 0.080 | 1 | 39985357 | intergenic variant | G/A;C | snv | 3 | |||
rs12826786 | 0.683 | 0.480 | 12 | 53961717 | upstream gene variant | C/T | snv | 0.38 | 26 | ||
rs889312 | 0.732 | 0.360 | 5 | 56736057 | regulatory region variant | C/A | snv | 0.69 | 14 | ||
rs1045642 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 214 | ||
rs2032582 | 0.538 | 0.800 | 7 | 87531302 | missense variant | A/C;T | snv | 0.54; 3.8E-02 | 97 | ||
rs505922 | 0.689 | 0.520 | 9 | 133273813 | intron variant | C/T | snv | 34 | |||
rs12733285 | 0.776 | 0.120 | 1 | 202952912 | intron variant | C/T | snv | 0.26 | 12 | ||
rs1342387 | 0.776 | 0.120 | 1 | 202945228 | intron variant | T/C | snv | 0.53 | 12 | ||
rs184003 | 0.724 | 0.400 | 6 | 32182519 | intron variant | C/A | snv | 0.12 | 0.12 | 15 | |
rs2070600 | 0.561 | 0.760 | 6 | 32183666 | missense variant | C/T | snv | 5.3E-02 | 3.6E-02 | 82 | |
rs1800625 | 0.641 | 0.680 | 6 | 32184665 | upstream gene variant | A/G | snv | 0.15 | 39 | ||
rs1130409 | 0.555 | 0.720 | 14 | 20456995 | missense variant | T/A;C;G | snv | 4.0E-06; 4.0E-06; 0.42 | 72 | ||
rs1047972 | 0.716 | 0.240 | 20 | 56386407 | missense variant | T/C | snv | 0.85 | 0.84 | 19 | |
rs2273535 | 0.645 | 0.360 | 20 | 56386485 | missense variant | A/C;T | snv | 0.28 | 38 | ||
rs1800469 | 0.547 | 0.760 | 19 | 41354391 | intron variant | A/G | snv | 0.69 | 78 | ||
rs17655 | 0.597 | 0.560 | 13 | 102875652 | missense variant | G/C | snv | 0.28 | 0.30 | 52 | |
rs873601 | 0.677 | 0.360 | 13 | 102875987 | 3 prime UTR variant | G/A | snv | 0.59 | 25 | ||
rs3803662 | 0.662 | 0.440 | 16 | 52552429 | non coding transcript exon variant | A/G | snv | 0.63 | 25 | ||
rs1447295 | 0.658 | 0.400 | 8 | 127472793 | intron variant | A/C;T | snv | 29 | |||
rs759397296 | 0.925 | 0.080 | 7 | 143294294 | missense variant | T/C | snv | 4.0E-06 | 3 | ||
rs3834129 | 0.627 | 0.560 | 2 | 201232809 | upstream gene variant | AGTAAG/- | del | 0.48 | 38 | ||
rs3807987 | 0.732 | 0.280 | 7 | 116539780 | intron variant | G/A | snv | 7.6E-02 | 17 | ||
rs7804372 | 0.716 | 0.320 | 7 | 116554174 | intron variant | T/A | snv | 0.27 | 19 | ||
rs1799864 | 0.572 | 0.680 | 3 | 46357717 | missense variant | G/A | snv | 0.13 | 0.12 | 68 | |
rs3212986 | 0.620 | 0.400 | 19 | 45409478 | stop gained | C/A;G;T | snv | 0.29; 4.3E-06; 4.3E-06 | 42 |