Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 | |||
rs699 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 134 | |
rs1800896 | 0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 | 113 | ||
rs800292 | 0.645 | 0.560 | 1 | 196673103 | missense variant | G/A | snv | 0.32 | 0.40 | 33 | |
rs2890565 | 0.732 | 0.440 | 1 | 7849677 | missense variant | C/T | snv | 8.7E-02 | 5.6E-02 | 15 | |
rs228648 | 0.776 | 0.360 | 1 | 7853370 | missense variant | G/A | snv | 0.51 | 0.52 | 13 | |
rs6128 | 0.851 | 0.360 | 1 | 169593666 | synonymous variant | C/A;T | snv | 2.8E-05; 0.24 | 5 | ||
rs2808629 | 0.925 | 0.160 | 1 | 159707006 | upstream gene variant | G/A | snv | 0.31 | 3 | ||
rs184340784 | 0.925 | 0.160 | 1 | 4529823 | intergenic variant | C/T | snv | 6.1E-04 | 2 | ||
rs3818569 | 0.925 | 0.160 | 1 | 165419892 | synonymous variant | G/A | snv | 2 | |||
rs6427247 | 0.925 | 0.160 | 1 | 170411339 | regulatory region variant | A/G | snv | 0.26 | 2 | ||
rs6704078 | 0.925 | 0.200 | 1 | 216437370 | intergenic variant | C/T | snv | 0.94 | 2 | ||
rs142293996 | 1.000 | 0.120 | 1 | 224260357 | intron variant | C/A | snv | 1.1E-02 | 1 | ||
rs1711347 | 1.000 | 0.120 | 1 | 243998680 | intron variant | G/A | snv | 0.53 | 1 | ||
rs2811893 | 1.000 | 0.120 | 1 | 58696476 | intron variant | T/C | snv | 0.39 | 1 | ||
rs3007729 | 1.000 | 0.120 | 1 | 18468761 | regulatory region variant | T/C;G | snv | 1 | |||
rs476141 | 1.000 | 0.120 | 1 | 244013122 | intron variant | G/A;T | snv | 1 | |||
rs512825 | 1.000 | 0.120 | 1 | 244006892 | intron variant | A/G | snv | 0.39 | 1 | ||
rs74152685 | 1.000 | 0.120 | 1 | 247647989 | intron variant | G/T | snv | 4.4E-02 | 1 | ||
rs2230774 | 0.807 | 0.240 | 2 | 11218994 | missense variant | G/C;T | snv | 0.49 | 12 | ||
rs1801282 | 0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 | 131 | |
rs1805192 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 121 | |||
rs1501299 | 0.597 | 0.720 | 3 | 186853334 | intron variant | G/C;T | snv | 52 | |||
rs2241766 | 0.608 | 0.720 | 3 | 186853103 | synonymous variant | T/C;G | snv | 8.0E-06; 0.13 | 48 |