Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1057518946 | 0.882 | 0.080 | X | 71223816 | missense variant | G/T | snv | 8 | |||
rs222747 | 0.827 | 0.240 | 17 | 3589906 | missense variant | C/A;G;T | snv | 0.72; 4.5E-06 | 8 | ||
rs765502022 | 0.827 | 0.240 | 4 | 69112695 | missense variant | T/C | snv | 1.6E-05 | 8 | ||
rs769540300 | 0.851 | 0.200 | 6 | 154091047 | missense variant | G/A | snv | 1.2E-05 | 8 | ||
rs1676486 | 0.851 | 0.120 | 1 | 102888582 | missense variant | A/G;T | snv | 0.80; 4.0E-06 | 7 | ||
rs2295633 | 0.827 | 0.120 | 1 | 46408711 | intron variant | A/G;T | snv | 7 | |||
rs2653349 | 0.882 | 0.120 | 6 | 55277539 | missense variant | A/G;T | snv | 0.84; 4.0E-06 | 5 | ||
rs751416416 | 0.882 | 0.120 | 8 | 53250920 | missense variant | C/A;T | snv | 8.3E-06; 4.1E-06 | 5 | ||
rs7958311 | 0.851 | 0.160 | 12 | 121167552 | missense variant | G/A;C | snv | 0.25; 4.0E-06 | 5 | ||
rs796590326 | 0.851 | 0.200 | 12 | 121162449 | missense variant | GT/AC | mnv | 5 | |||
rs1057518927 | 0.925 | 0.080 | 10 | 124402952 | missense variant | T/C | snv | 4 | |||
rs61751364 | 0.882 | 0.120 | X | 154030944 | frameshift variant | CGGAT/- | delins | 4 | |||
rs80338761 | 0.882 | 0.080 | 17 | 77402298 | missense variant | C/T | snv | 4 | |||
rs8904 | 0.925 | 0.120 | 14 | 35402011 | 3 prime UTR variant | G/A;C;T | snv | 0.39; 4.0E-06 | 4 | ||
rs1051660 | 1.000 | 0.080 | 8 | 53251002 | synonymous variant | C/A;T | snv | 0.11 | 3 | ||
rs324419 | 0.925 | 0.120 | 1 | 46406314 | stop gained | T/A;C | snv | 0.87 | 3 | ||
rs6334 | 1.000 | 0.080 | 1 | 156876441 | missense variant | G/A;C;T | snv | 0.22; 4.0E-06 | 3 | ||
rs104894379 | 1.000 | 0.120 | 12 | 114398675 | stop gained | G/A;C;T | snv | 2 | |||
rs1288779666 | 1.000 | 0.120 | 22 | 42128944 | missense variant | C/G | snv | 2 | |||
rs201059543 | 12 | 121184366 | missense variant | C/G;T | snv | 4.0E-06; 3.6E-05 | 2 | ||||
rs33985936 | 3 | 38894643 | missense variant | C/A;T | snv | 8.0E-06; 0.22 | 2 | ||||
rs376128467 | 3 | 38894920 | missense variant | A/G;T | snv | 4.0E-06 | 2 | ||||
rs3766246 | 1 | 46399999 | intron variant | A/C;G | snv | 2 | |||||
rs5993882 | 22 | 19950010 | intron variant | T/C;G | snv | 2 | |||||
rs748653984 | 1.000 | 0.080 | 1 | 156868159 | missense variant | T/A;C | snv | 4.0E-06; 4.0E-06 | 2 |