Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1486559930 | 11 | 49175866 | missense variant | A/G | snv | 4.0E-06 | 1 | ||||
rs935907949 | 16 | 28867355 | missense variant | C/T | snv | 7.0E-06 | 1 | ||||
rs17446593 | 1.000 | 0.080 | 13 | 40553948 | intron variant | A/G | snv | 0.19 | 2 | ||
rs11061946 | 1.000 | 0.080 | 12 | 1719361 | intron variant | C/T | snv | 6.8E-02 | 2 | ||
rs11061973 | 1.000 | 0.080 | 12 | 1756770 | intron variant | G/A | snv | 0.12 | 2 | ||
rs1527483 | 1.000 | 0.080 | 7 | 80672184 | intron variant | G/A | snv | 6.7E-02 | 2 | ||
rs3731201 | 1.000 | 0.080 | 9 | 21988897 | intron variant | C/T | snv | 0.86 | 2 | ||
rs495490 | 1.000 | 0.080 | 9 | 22010413 | intron variant | A/G | snv | 6.8E-02 | 2 | ||
rs760555162 | 1.000 | 0.080 | 12 | 6537178 | synonymous variant | G/A | snv | 4.0E-06 | 2 | ||
rs33954001 | 1.000 | 0.120 | 22 | 32110063 | missense variant | C/G;T | snv | 4.8E-02; 2.4E-05 | 2 | ||
rs775018856 | 1.000 | 0.080 | 17 | 7283304 | synonymous variant | G/A | snv | 2.8E-05 | 1.4E-05 | 2 | |
rs2073162 | 1.000 | 0.080 | X | 100594020 | synonymous variant | G/A | snv | 0.40 | 0.39 | 2 | |
rs945508 | 1.000 | 0.080 | 1 | 156937289 | missense variant | T/C | snv | 0.64 | 0.66 | 3 | |
rs2297627 | 0.925 | 0.120 | 13 | 40659794 | intron variant | A/G | snv | 0.41 | 3 | ||
rs867232360 | 1.000 | 0.040 | 7 | 44145552 | missense variant | C/T | snv | 3 | |||
rs13283456 | 0.925 | 0.080 | 9 | 128122474 | missense variant | C/A;T | snv | 4.0E-06; 0.13 | 3 | ||
rs2721068 | 0.882 | 0.160 | 13 | 40565575 | intron variant | T/C | snv | 0.38 | 4 | ||
rs72551362 | 0.925 | 0.080 | 3 | 12416836 | missense variant | G/A | snv | 4.0E-06 | 4 | ||
rs1799999 | 0.882 | 0.160 | 7 | 113878379 | missense variant | C/A | snv | 0.22 | 0.17 | 4 | |
rs17446614 | 0.851 | 0.240 | 13 | 40565740 | intron variant | G/A | snv | 0.16 | 5 | ||
rs3813929 | 0.851 | 0.240 | X | 114584047 | upstream gene variant | C/G;T | snv | 5 | |||
rs587783672 | 0.882 | 0.080 | 11 | 17387413 | missense variant | C/T | snv | 4.0E-06 | 5 | ||
rs1884614 | 0.882 | 0.080 | 20 | 44351879 | non coding transcript exon variant | C/T | snv | 0.18 | 5 | ||
rs2293855 | 0.851 | 0.120 | 8 | 11319901 | non coding transcript exon variant | G/A | snv | 0.35 | 5 | ||
rs2233580 | 0.882 | 0.080 | 7 | 127613496 | missense variant | C/T | snv | 8.2E-03 | 2.1E-03 | 5 |