Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs755246809 | 0.827 | 0.280 | 6 | 135404951 | frameshift variant | T/- | delins | 5.9E-04 | 4.9E-05 | 7 | |
rs146318841 | 6 | 135328483 | intron variant | TGCCATAAACCATAGCCATAG/-;TGCCATAAACCATAGCCATAGTGCCATAAACCATAGCCATAG | delins | 4 | |||||
rs11154801 | 0.882 | 0.160 | 6 | 135418217 | intron variant | C/A | snv | 0.28 | 3 | ||
rs121434350 | 0.882 | 0.240 | 6 | 135455750 | missense variant | A/T | snv | 3 | |||
rs6914831 | 1.000 | 0.080 | 6 | 135318506 | 3 prime UTR variant | C/T | snv | 0.59 | 0.59 | 3 | |
rs863225135 | 0.882 | 0.240 | 6 | 135427244 | missense variant | T/C | snv | 1.4E-05 | 3 | ||
rs121434351 | 0.925 | 0.240 | 6 | 135433125 | missense variant | C/T | snv | 2.8E-05 | 2.8E-05 | 2 | |
rs148000791 | 0.925 | 0.120 | 6 | 135323233 | missense variant | T/C | snv | 3.8E-03 | 1.2E-03 | 2 | |
rs371637724 | 0.925 | 0.240 | 6 | 135448400 | stop gained | G/A;C;T | snv | 1.6E-05; 4.0E-06 | 2 | ||
rs372659908 | 0.925 | 0.160 | 6 | 135433081 | stop gained | G/A | snv | 1.2E-05 | 2.8E-05 | 2 | |
rs397514726 | 0.925 | 0.240 | 6 | 135457593 | missense variant | C/A;T | snv | 4.0E-05 | 2 | ||
rs587783013 | 0.925 | 0.160 | 6 | 135433119 | stop gained | C/T | snv | 1.6E-05 | 7.0E-06 | 2 | |
rs6928977 | 0.925 | 0.120 | 6 | 135305210 | intron variant | T/G | snv | 0.70 | 2 | ||
rs7773987 | 0.925 | 0.080 | 6 | 135386348 | intron variant | C/T | snv | 0.60 | 2 | ||
rs777668842 | 0.925 | 0.240 | 6 | 135455811 | stop gained | G/A;C | snv | 6.5E-05; 4.3E-06 | 2 | ||
rs780163791 | 0.925 | 0.160 | 6 | 135323294 | stop gained | G/A;C | snv | 4.0E-05; 4.0E-06 | 2 | ||
rs794729195 | 0.925 | 0.240 | 6 | 135455873 | frameshift variant | G/- | delins | 2 | |||
rs797045223 | 0.925 | 0.240 | 6 | 135442633 | stop gained | C/A | snv | 2 | |||
rs797045224 | 0.925 | 0.160 | 6 | 135433206 | missense variant | T/C | snv | 2 | |||
rs121434348 | 1.000 | 0.120 | 6 | 135457594 | stop gained | G/A | snv | 1 | |||
rs121434349 | 1.000 | 0.120 | 6 | 135455775 | stop gained | G/A;T | snv | 8.5E-06; 3.8E-05 | 1 | ||
rs12190426 | 6 | 135391300 | intron variant | G/A | snv | 0.15 | 1 | ||||
rs1276908141 | 1.000 | 0.160 | 6 | 135433187 | synonymous variant | C/T | snv | 4.0E-06 | 1 | ||
rs13208164 | 6 | 135400147 | intron variant | G/A;T | snv | 1 | |||||
rs13312995 | 6 | 135429886 | missense variant | G/A | snv | 2.0E-02 | 2.0E-02 | 1 |