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 | |||
rs1800562 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 262 | |
rs77375493 | 0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 | 187 | ||
rs1188383936 | 0.524 | 0.760 | 11 | 46725976 | missense variant | C/T | snv | 8.0E-06 | 102 | ||
rs3184504 | 0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 | 92 | ||
rs2736100 | 0.550 | 0.880 | 5 | 1286401 | 3 prime UTR variant | C/A | snv | 0.52 | 83 | ||
rs17576 | 0.557 | 0.760 | 20 | 46011586 | missense variant | A/G | snv | 0.39 | 0.36 | 73 | |
rs121913615 | 0.683 | 0.240 | 1 | 43349338 | missense variant | G/C;T | snv | 8.0E-06 | 25 | ||
rs201478192 | 0.790 | 0.200 | 2 | 8731667 | missense variant | C/A | snv | 2.4E-04 | 2.6E-04 | 12 | |
rs9376092 | 0.851 | 0.120 | 6 | 135106006 | upstream gene variant | C/A | snv | 0.24 | 10 | ||
rs12343867 | 0.790 | 0.200 | 9 | 5074189 | intron variant | T/C | snv | 0.25 | 9 | ||
rs121913616 | 0.790 | 0.120 | 1 | 43349337 | missense variant | TG/AA | mnv | 8 | |||
rs121913614 | 0.790 | 0.120 | 1 | 43349308 | missense variant | G/A | snv | 7 | |||
rs750046020 | 0.827 | 0.080 | 1 | 43338646 | missense variant | C/G;T | snv | 8.0E-06; 8.0E-05 | 6 | ||
rs1057520016 | 0.851 | 0.080 | 9 | 5089726 | missense variant | C/A;T | snv | 5 | |||
rs12342421 | 0.851 | 0.080 | 9 | 5065750 | intron variant | G/C | snv | 0.23 | 5 | ||
rs146249964 | 0.851 | 0.080 | 1 | 43337929 | splice donor variant | T/A | snv | 4.0E-04 | 1.7E-04 | 5 | |
rs28928907 | 0.882 | 0.160 | 1 | 43338634 | missense variant | G/A;C | snv | 8.0E-06; 3.8E-04 | 4 | ||
rs562533120 | 0.882 | 0.080 | 6 | 134966397 | missense variant | A/C | snv | 8.0E-06 | 3 | ||
rs10974947 | 0.882 | 0.080 | 9 | 5072846 | intron variant | G/A | snv | 0.23 | 3 | ||
rs10815148 | 0.882 | 0.080 | 9 | 5057284 | intron variant | T/A | snv | 0.33 | 3 | ||
rs318699 | 0.882 | 0.080 | 19 | 11390564 | intron variant | A/G | snv | 0.73 | 3 | ||
rs121913454 | 0.925 | 0.080 | 9 | 130874969 | missense variant | A/G | snv | 2 | |||
rs111340708 | 0.925 | 0.080 | 12 | 111447548 | intron variant | TGGGGTGGGGTGGGG/-;TGGGG;TGGGGTGGGG;TGGGGTGGGGTGGGGTGGGG;TGGGGTGGGGTGGGGTGGGGTGGGG | delins | 0.52 | 2 |