Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs41311141 | 22 | 32484019 | synonymous variant | A/G;T | snv | 3.4E-02 | 1 | ||||
rs758414077 | 19 | 48966681 | synonymous variant | G/A | snv | 8.0E-06 | 2.8E-05 | 1 | |||
rs55739947 | 15 | 101010802 | missense variant | C/A | snv | 9.3E-03 | 8.4E-03 | 1 | |||
rs1417802320 | 1 | 7962861 | missense variant | A/T | snv | 4.0E-06 | 1 | ||||
rs756677845 | 1 | 20638074 | frameshift variant | G/- | del | 1 | |||||
rs45467995 | 1 | 20649062 | missense variant | G/A | snv | 1 | |||||
rs752804472 | 20 | 31484309 | missense variant | G/A;T | snv | 5.7E-06; 5.7E-06 | 1 | ||||
rs748705829 | 11 | 233109 | missense variant | T/C | snv | 8.0E-06 | 1 | ||||
rs1057519629 | 16 | 2498332 | missense variant | C/G;T | snv | 2.1E-05 | 1 | ||||
rs781652026 | 10 | 100989789 | missense variant | G/A;T | snv | 4.0E-06 | 1 | ||||
rs1057518882 | MT | 14598 | missense variant | T/C | snv | 2 | |||||
rs2421947 | 1.000 | 0.040 | 1 | 171863954 | intron variant | C/G;T | snv | 2 | |||
rs762999184 | 1.000 | 0.080 | 22 | 32478989 | missense variant | C/A;T | snv | 4.0E-06 | 7.0E-06 | 2 | |
rs772784579 | 1.000 | 0.040 | 17 | 44352387 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 | 2 | ||
rs111501952 | 1.000 | 0.040 | 12 | 40310461 | missense variant | G/A | snv | 4.4E-05 | 7.7E-05 | 2 | |
rs1239756674 | 1.000 | 0.040 | X | 43743818 | synonymous variant | G/A | snv | 2 | |||
rs28940285 | 1.000 | 0.040 | 1 | 20645640 | missense variant | T/C | snv | 1.6E-05 | 3.5E-05 | 2 | |
rs775809722 | 1.000 | 0.040 | 1 | 20633925 | missense variant | A/C;G | snv | 5.3E-06; 3.7E-05 | 2 | ||
rs63750680 | 1.000 | 0.080 | 14 | 73198076 | missense variant | T/C | snv | 2 | |||
rs757199733 | 2 | 178799505 | missense variant | G/A | snv | 8.0E-06 | 7.0E-06 | 2 | |||
rs139548132 | 1.000 | 1 | 119140608 | missense variant | A/C;G;T | snv | 3.2E-03; 1.6E-05; 4.0E-06 | 2 | |||
rs12817488 | 1.000 | 0.040 | 12 | 122811747 | intron variant | G/A | snv | 0.39 | 3 | ||
rs113388242 | 0.925 | 0.080 | 3 | 184327376 | missense variant | C/T | snv | 4.0E-05 | 7.0E-05 | 3 | |
rs774457232 | 0.925 | 0.080 | 3 | 184331303 | missense variant | G/A;T | snv | 6.4E-05 | 3 | ||
rs267604921 | 0.925 | 0.160 | 17 | 45993953 | missense variant | C/A;G;T | snv | 6.3E-05; 2.5E-04; 5.3E-06 | 3 |