Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs527624522 | 0.925 | 0.080 | 11 | 44107723 | missense variant | C/T | snv | 6.4E-05 | 2.1E-05 | 5 | |
rs1057518930 | 1.000 | 0.080 | 17 | 50197009 | splice donor variant | C/G | snv | 3 | |||
rs9525641 | 0.925 | 0.080 | 13 | 42573888 | intron variant | T/C | snv | 0.47 | 3 | ||
rs312009 | 0.925 | 0.080 | 11 | 68309770 | upstream gene variant | T/A;C | snv | 2 | |||
rs780508132 | 0.925 | 0.080 | X | 32386352 | missense variant | T/A | snv | 5.5E-06 | 1.9E-05 | 2 | |
rs1335534133 | 1.000 | 0.080 | X | 32485069 | missense variant | G/A | snv | 9.5E-06 | 1 | ||
rs1473998316 | 1.000 | 0.080 | 17 | 50195926 | synonymous variant | A/G | snv | 1 | |||
rs1423415130 | 0.851 | 0.120 | 17 | 50360241 | missense variant | G/A | snv | 7.0E-06 | 6 | ||
rs4355801 | 0.882 | 0.120 | 8 | 118911634 | regulatory region variant | A/G;T | snv | 5 | |||
rs2273073 | 0.882 | 0.120 | 20 | 6770235 | missense variant | T/C;G | snv | 2.4E-02 | 3 | ||
rs1653624 | 0.925 | 0.120 | 12 | 121184717 | missense variant | T/A | snv | 1.5E-02 | 2 | ||
rs773472534 | 0.925 | 0.120 | 3 | 193618885 | synonymous variant | G/A | snv | 2.8E-05 | 2 | ||
rs235768 | 0.807 | 0.160 | 20 | 6778468 | missense variant | A/G;T | snv | 0.67 | 8 | ||
rs1555222973 | 0.851 | 0.160 | 11 | 46312636 | inframe deletion | AAG/- | delins | 6 | |||
rs1569508922 | 0.882 | 0.160 | X | 111681268 | missense variant | T/A | snv | 5 | |||
rs1057516036 | 0.925 | 0.160 | 7 | 94423065 | missense variant | G/A | snv | 4 | |||
rs4988321 | 0.851 | 0.160 | 11 | 68406721 | missense variant | G/A;C | snv | 3.8E-02 | 4 | ||
rs749292 | 0.851 | 0.160 | 15 | 51266534 | intron variant | G/A | snv | 0.44 | 4 | ||
rs9536314 | 0.925 | 0.160 | 13 | 33054001 | missense variant | T/A;G | snv | 0.14 | 3 | ||
rs121909149 | 0.925 | 0.160 | 4 | 2831573 | missense variant | G/A;C | snv | 2 | |||
rs104893941 | 0.776 | 0.200 | 5 | 179836445 | missense variant | C/T | snv | 9.8E-04 | 1.3E-03 | 9 | |
rs751093906 | 0.882 | 0.200 | 8 | 42472255 | stop gained | G/A;C | snv | 4.0E-06 | 8 | ||
rs28360457 | 0.882 | 0.200 | 12 | 121175426 | missense variant | G/A | snv | 8.6E-03 | 1.1E-02 | 3 | |
rs66527965 | 0.763 | 0.240 | 17 | 50193038 | missense variant | C/A;T | snv | 31 | |||
rs139751598 | 0.851 | 0.240 | 17 | 81934931 | missense variant | C/T | snv | 2.4E-05 | 4.2E-05 | 13 |