Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs174594 | 0.776 | 0.160 | 11 | 61852357 | intron variant | C/A;T | snv | 14 | |||
rs2230774 | 0.807 | 0.240 | 2 | 11218994 | missense variant | G/C;T | snv | 0.49 | 12 | ||
rs7754840 | 0.807 | 0.200 | 6 | 20661019 | intron variant | G/A;C;T | snv | 9 | |||
rs911119 | 0.807 | 0.120 | 20 | 23632100 | non coding transcript exon variant | C/G;T | snv | 9 | |||
rs2296545 | 0.851 | 0.160 | 10 | 88583080 | missense variant | C/G;T | snv | 0.46 | 8 | ||
rs1394125 | 0.882 | 0.200 | 15 | 75866642 | intron variant | G/A;T | snv | 7 | |||
rs734553 | 0.851 | 0.240 | 4 | 9921380 | intron variant | G/A;T | snv | 7 | |||
rs881858 | 0.882 | 0.200 | 6 | 43838872 | intron variant | G/A;C | snv | 7 | |||
rs1059703 | 0.851 | 0.280 | X | 154013378 | missense variant | G/A | snv | 0.67 | 6 | ||
rs12922822 | 1.000 | 0.040 | 16 | 20356323 | upstream gene variant | C/A;T | snv | 5 | |||
rs28456 | 0.925 | 0.120 | 11 | 61822009 | intron variant | A/C;G | snv | 5 | |||
rs5854292 | 0.851 | 0.080 | 3 | 168680960 | intron variant | AA/-;A;AAA | delins | 5 | |||
rs6046 | 0.925 | 0.080 | 13 | 113118845 | missense variant | G/A;C;T | snv | 0.13 | 5 | ||
rs174567 | 1.000 | 0.080 | 11 | 61825533 | intron variant | A/G;T | snv | 4 | |||
rs174568 | 1.000 | 0.080 | 11 | 61826344 | missense variant | C/A;T | snv | 0.37 | 4 | ||
rs174580 | 1.000 | 0.080 | 11 | 61839170 | intron variant | A/C;G | snv | 4 | |||
rs174581 | 0.925 | 0.160 | 11 | 61839211 | intron variant | G/A;C | snv | 4 | |||
rs2279463 | 1.000 | 0.080 | 6 | 160247357 | intron variant | A/G;T | snv | 4 | |||
rs2467853 | 1.000 | 0.080 | 15 | 45406595 | intron variant | T/A;G | snv | 4 | |||
rs370402227 | 0.925 | 0.120 | 7 | 150996443 | missense variant | G/A;C | snv | 1.1E-05 | 4 | ||
rs4744712 | 1.000 | 0.080 | 9 | 68819791 | intron variant | A/C;T | snv | 4 | |||
rs515299 | 0.925 | 0.080 | 1 | 196737547 | missense variant | G/A;C;T | snv | 4.8E-05; 1.7E-02 | 4 | ||
rs1057518797 | 4 | 88008090 | frameshift variant | CCCGGGCA/TAGGACG | delins | 3 | |||||
rs12107 | 1.000 | 0.040 | 22 | 36281936 | 3 prime UTR variant | G/A;T | snv | 3 | |||
rs121917832 | 0.925 | 0.200 | 12 | 12718066 | stop gained | G/A | snv | 3 |