Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs10644111 | 1.000 | 0.080 | 7 | 92022864 | protein altering variant | -/AAC | delins | 0.39 | 0.46 | 1 | |
rs6960867 | 0.882 | 0.080 | 7 | 92083384 | missense variant | A/G | snv | 0.36 | 0.34 | 3 | |
rs144662445 | 1.000 | 0.080 | 7 | 92079771 | missense variant | A/G | snv | 6.1E-04 | 2.5E-03 | 1 | |
rs149454736 | 1.000 | 0.080 | 7 | 92101277 | intron variant | A/T | snv | 3.1E-02 | 1 | ||
rs771608420 | 1.000 | 0.080 | 7 | 92001217 | missense variant | C/A;T | snv | 2.0E-05; 8.0E-06 | 1 | ||
rs2282972 | 7 | 92037055 | intron variant | C/G;T | snv | 1 | |||||
rs11772585 | 7 | 91952189 | intron variant | C/T | snv | 0.11 | 1 | ||||
rs121908566 | 1.000 | 0.120 | 7 | 92040690 | missense variant | C/T | snv | 8.2E-06 | 1 | ||
rs149979685 | 1.000 | 0.080 | 7 | 92102796 | missense variant | C/T | snv | 4.1E-04 | 1.4E-03 | 1 | |
rs371245265 | 1.000 | 0.080 | 7 | 91940884 | 5 prime UTR variant | CGGCGGCGG/-;CGG;CGGCGG;CGGCGGCGGCGG;CGGCGGCGGCGGCGG;CGGCGGCGGCGGCGGCGG;CGGCGGCGGCGGCGGCGGCGG | delins | 1 | |||
rs1563145763 | 1.000 | 0.120 | 7 | 92099838 | stop gained | G/A | snv | 1 | |||
rs7808587 | 7 | 91990782 | intron variant | G/A | snv | 0.57 | 1 | ||||
rs756245027 | 1.000 | 0.080 | 7 | 92096848 | missense variant | G/C | snv | 4.0E-06 | 1 | ||
rs6964587 | 0.851 | 0.120 | 7 | 92001306 | missense variant | G/T | snv | 0.38 | 0.42 | 4 | |
rs730880043 | 1.000 | 0.120 | 7 | 92001406 | stop gained | G/T | snv | 1 | |||
rs765388668 | 1.000 | 0.080 | 7 | 92002488 | missense variant | T/A | snv | 8.1E-06 | 3 | ||
rs796052199 | 1.000 | 0.120 | 7 | 92002212 | missense variant | T/A | snv | 1 | |||
rs796052200 | 1.000 | 0.120 | 7 | 92045186 | missense variant | T/A | snv | 4.0E-06 | 1 |