Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs2011861 | 1.000 | 0.080 | 22 | 39084658 | intron variant | C/G;T | snv | 1 | |||
rs5757463 | 1.000 | 0.080 | 22 | 39076560 | upstream gene variant | G/C;T | snv | 1 | |||
rs7291971 | 1.000 | 0.080 | 22 | 39076169 | upstream gene variant | C/A;G | snv | 1 | |||
rs11489585 | 1.000 | 0.080 | 7 | 77685535 | intron variant | A/G | snv | 0.24 | 1 | ||
rs752745942 | 1.000 | 0.080 | X | 67711555 | missense variant | C/G;T | snv | 5.5E-06; 5.5E-06 | 1 | ||
rs73013281 | 1.000 | 0.080 | 6 | 156777090 | 5 prime UTR variant | T/C | snv | 7.3E-02 | 1 | ||
rs9397984 | 1.000 | 0.080 | 6 | 156898551 | intron variant | T/C | snv | 0.14 | 1 | ||
rs34050735 | 1.000 | 0.080 | 7 | 97871848 | 5 prime UTR variant | G/C;T | snv | 1 | |||
rs3774729 | 1.000 | 0.080 | 3 | 63996406 | missense variant | G/A;T | snv | 0.34; 8.0E-06 | 1 | ||
rs11539196 | 1.000 | 0.080 | 20 | 56370541 | missense variant | C/A | snv | 4.0E-06 | 1 | ||
rs116350678 | 1.000 | 0.080 | 16 | 298233 | missense variant | C/T | snv | 4.8E-03 | 2.3E-02 | 1 | |
rs117208012 | 1.000 | 0.080 | 16 | 297063 | missense variant | C/A;T | snv | 8.0E-06; 1.6E-02 | 1 | ||
rs587776627 | 1.000 | 0.080 | 16 | 309973 | frameshift variant | GGGAATGTGAGGTAGGGGCACCCGCCCATTGA/- | del | 1 | |||
rs779951904 | 1.000 | 0.080 | 16 | 310055 | missense variant | G/A | snv | 2.0E-05 | 1.4E-05 | 1 | |
rs10052999 | 1.000 | 0.080 | 5 | 41165642 | intron variant | C/T | snv | 7.5E-02 | 1 | ||
rs587776665 | 1.000 | 0.080 | 2 | 201285238 | frameshift variant | GT/- | delins | 1 | |||
rs729949 | 1.000 | 0.080 | 7 | 116554851 | intron variant | G/A | snv | 0.27 | 1 | ||
rs2036316 | 1.000 | 0.080 | 17 | 79780979 | intron variant | T/C | snv | 0.68 | 1 | ||
rs2289728 | 1.000 | 0.080 | 17 | 79838055 | intron variant | G/A | snv | 0.25 | 1 | ||
rs139394 | 1.000 | 0.080 | 22 | 39142209 | intron variant | A/C | snv | 0.70 | 1 | ||
rs903934130 | 1.000 | 0.080 | 15 | 74318618 | missense variant | C/T | snv | 2.1E-05 | 1 | ||
rs3766377 | 1.000 | 0.080 | 1 | 160830769 | 3 prime UTR variant | A/G | snv | 0.34 | 1 | ||
rs17718883 | 1.000 | 0.080 | 9 | 5462876 | missense variant | C/G | snv | 3.9E-03 | 3.5E-03 | 1 | |
rs144479038 | 1.000 | 0.080 | 14 | 54411612 | missense variant | A/G | snv | 3.4E-04 | 2.4E-04 | 1 | |
rs371471370 | 1.000 | 0.080 | 14 | 54420031 | missense variant | G/A | snv | 1.4E-05 | 1 |