Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1188536960 | 0.882 | 0.120 | 15 | 45043305 | missense variant | A/G | snv | 5 | |||
rs780439043 | 0.925 | 0.080 | 7 | 55205301 | missense variant | A/G | snv | 8.0E-06 | 1.4E-05 | 3 | |
rs138106763 | 1.000 | 0.040 | 7 | 100857102 | missense variant | A/G | snv | 7.2E-05 | 1.2E-04 | 2 | |
rs1400826115 | 1.000 | 0.080 | 3 | 9756770 | missense variant | A/G | snv | 4.0E-06 | 2 | ||
rs1051992 | 11 | 6319476 | missense variant | A/G | snv | 4.2E-06; 0.55 | 0.51 | 1 | |||
rs7717457 | 5 | 40887679 | intergenic variant | A/G | snv | 0.23 | 1 | ||||
rs4986790 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 223 | ||
rs1045642 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 214 | ||
rs231775 | 0.504 | 0.720 | 2 | 203867991 | missense variant | A/G;T | snv | 0.42; 4.0E-06 | 115 | ||
rs121913279 | 0.526 | 0.560 | 3 | 179234297 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 | 101 | ||
rs121913682 | 0.605 | 0.400 | 4 | 54733167 | missense variant | A/G;T | snv | 52 | |||
rs2234922 | 0.630 | 0.440 | 1 | 225838705 | missense variant | A/G;T | snv | 0.19; 2.8E-05 | 42 | ||
rs4646903 | 0.630 | 0.640 | 15 | 74719300 | downstream gene variant | A/G;T | snv | 0.18 | 36 | ||
rs1800624 | 0.658 | 0.480 | 6 | 32184610 | upstream gene variant | A/G;T | snv | 33 | |||
rs4673 | 0.653 | 0.600 | 16 | 88646828 | missense variant | A/G;T | snv | 0.70 | 32 | ||
rs562015640 | 0.742 | 0.360 | 10 | 87960957 | stop gained | A/G;T | snv | 1.2E-05 | 16 | ||
rs1550117 | 0.790 | 0.320 | 2 | 25343038 | upstream gene variant | A/G;T | snv | 11 | |||
rs246079 | 0.790 | 0.120 | 12 | 109109255 | intron variant | A/G;T | snv | 9 | |||
rs267601395 | 0.925 | 0.160 | 7 | 148811636 | missense variant | A/G;T | snv | 7 | |||
rs4073 | 0.566 | 0.800 | 4 | 73740307 | upstream gene variant | A/T | snv | 0.46 | 64 | ||
rs121913507 | 0.614 | 0.400 | 4 | 54733155 | missense variant | A/T | snv | 49 | |||
rs1057519903 | 0.683 | 0.080 | 1 | 226064434 | missense variant | A/T | snv | 28 | |||
rs777980327 | 0.716 | 0.280 | 5 | 112837567 | missense variant | A/T | snv | 4.0E-06 | 7.0E-06 | 21 | |
rs28362491 | 0.592 | 0.720 | 4 | 102500998 | non coding transcript exon variant | ATTG/- | delins | 56 | |||
rs762551 | 0.701 | 0.400 | 15 | 74749576 | intron variant | C/A | snv | 0.67 | 23 |